CTNNB1 (catenin beta 1)

Gene

• Entrez ID: 1499
• Gene name: Catenin beta 1
• Gene symbol: CTNNB1
• Synonyms (NCBI Gene): CTNNB, EVR7, MRD19, NEDSDV, armadillo
• Chromosome: 3
• Chromosome location: 3p22.1
• Summary: The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded prot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931588	G>A,C,T	Pathogenic, other, likely-pathogenic	Missense variant, coding sequence variant
rs28931589	G>A,C,T	Uncertain-significance, pathogenic, other, likely-pathogenic	Missense variant, coding sequence variant
rs77064436	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs121913228	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913394	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913396	A>C,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913399	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913400	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs121913403	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913407	T>C,G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913409	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, other	Missense variant, coding sequence variant
rs121913412	A>C,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, other	Missense variant, coding sequence variant
rs121913413	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913416	TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs121913417	GGCAGCAACAGTCTTACCTGGACT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs376393123	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397514554	C>T	Pathogenic	Coding sequence variant, stop gained
rs398122907	TTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs483352717	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs587776850	TCT>-	Other, pathogenic	Coding sequence variant, inframe deletion
rs587777412	->A	Pathogenic	Coding sequence variant, frameshift variant
rs748294403	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs748653573	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs750402920	T>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs775104326	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs778624338	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs797044875	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs863224864	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs864309577	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039332	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs886041281	->A	Pathogenic	Stop gained, coding sequence variant
rs886041444	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041553	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519379	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1057519380	->TAGCTATCGTTCTTTT	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1057519836	A>C,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519837	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519886	T>A,C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520556	A>T	Pathogenic	Stop gained, coding sequence variant
rs1057520730	T>A	Pathogenic	Stop gained, coding sequence variant
rs1057521882	G>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1064793509	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793948	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796240	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796453	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1064796646	G>C	Pathogenic	Intron variant
rs1131691585	C>G	Likely-pathogenic	Intron variant
rs1131691736	AGCTGCTATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131692181	C>T	Pathogenic	Stop gained, coding sequence variant
rs1369821061	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1553630279	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553630304	->CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC	Pathogenic	Inframe insertion, stop gained, coding sequence variant
rs1553630458	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553630472	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553630507	ACA>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1553630789	A>G	Pathogenic	Splice acceptor variant
rs1553630795	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553631770	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553631783	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553631845	CT>G	Pathogenic	Frameshift variant, coding sequence variant
rs1553631860	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553631896	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553632001	G>C	Pathogenic	Synonymous variant, coding sequence variant
rs1553632357	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553632361	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553632412	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553632414	T>C,G	Pathogenic	Splice donor variant
rs1559468403	G>C	Pathogenic	Splice donor variant
rs1559470315	CCACAAGCAG>T	Likely-pathogenic	Inframe indel, coding sequence variant
rs1559474040	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559474311	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559474364	A>T	Pathogenic	Stop gained, coding sequence variant
rs1559474557	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559474966	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559477241	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1559478415	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575315766	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1575316657	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1575317915	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575320216	ATCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575328856	CTGTCTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575329479	CTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575330336	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575333081	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1575334103	G>T	Pathogenic	Stop gained, coding sequence variant
rs1575334396	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs1575337368	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575339920	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001175	hsa-miR-200a-3p	qRT-PCR, Luciferase reporter assay, Western blot	19703993
MIRT001175	hsa-miR-200a-3p	qRT-PCR, Luciferase reporter assay, Western blot	19703993
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay	19703993
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	19931509
MIRT001557	hsa-miR-155-5p	pSILAC	18668040
MIRT007031	hsa-miR-214-3p	Luciferase reporter assay	23068095
MIRT001175	hsa-miR-200a-3p	Reporter assay;Western blot;qRT-PCR	19931509
MIRT001557	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT022723	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024185	hsa-miR-221-3p	Sequencing	20371350
MIRT025403	hsa-miR-34a-5p	Proteomics	21566225
MIRT025403	hsa-miR-34a-5p	Proteomics	21566225
MIRT028521	hsa-miR-30a-5p	Proteomics	18668040
MIRT043472	hsa-miR-331-3p	CLASH	23622248
MIRT037926	hsa-miR-532-3p	CLASH	23622248
MIRT037700	hsa-miR-744-5p	CLASH	23622248
MIRT036496	hsa-miR-1226-3p	CLASH	23622248
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	22211245
MIRT001175	hsa-miR-200a-3p	Flow, Luciferase reporter assay, Western blot	22211245
MIRT053427	hsa-miR-512-5p	Microarray	23807165
MIRT053731	hsa-miR-624-3p	Microarray	22942087
MIRT007031	hsa-miR-214-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22962603
MIRT054050	hsa-miR-34a-3p	Luciferase reporter assay, Western blot	22421157
MIRT054050	hsa-miR-34a-3p	Luciferase reporter assay, Western blot	22421157
MIRT054051	hsa-miR-34b-5p	Luciferase reporter assay, Western blot	22421157
MIRT054051	hsa-miR-34b-5p	Luciferase reporter assay, Western blot	22421157
MIRT054052	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT054052	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT307297	hsa-miR-548l	HITS-CLIP	23313552
MIRT704447	hsa-miR-875-5p	HITS-CLIP	23313552
MIRT704446	hsa-miR-3973	HITS-CLIP	23313552
MIRT704445	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT704444	hsa-miR-520h	HITS-CLIP	23313552
MIRT704443	hsa-miR-3688-5p	HITS-CLIP	23313552
MIRT704442	hsa-miR-891a-3p	HITS-CLIP	23313552
MIRT704441	hsa-miR-3144-3p	HITS-CLIP	23313552
MIRT704440	hsa-miR-7108-5p	HITS-CLIP	23313552
MIRT704439	hsa-miR-4474-3p	HITS-CLIP	23313552
MIRT704438	hsa-miR-607	HITS-CLIP	23313552
MIRT704437	hsa-miR-2113	HITS-CLIP	23313552
MIRT704436	hsa-miR-5010-3p	HITS-CLIP	23313552
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT307327	hsa-miR-7849-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	23446348
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT091935	hsa-miR-8062	PAR-CLIP	23446348
MIRT209910	hsa-miR-4255	PAR-CLIP	23446348
MIRT091932	hsa-miR-4765	PAR-CLIP	23446348
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay	26878281
MIRT001175	hsa-miR-200a-3p	Luciferase reporter assay	26878281
MIRT731452	hsa-miR-370-3p	Luciferase reporter assay	27138069
MIRT731452	hsa-miR-370-3p	Luciferase reporter assay	27138069
MIRT732085	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732085	hsa-miR-375	Luciferase reporter assay	28158288
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assay, qRT-PCR, Western blot	26959414
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assay, qRT-PCR, Western blot	26959414
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assay, qRT-PCR, Western blot	26959414
MIRT732180	hsa-miR-3162-3p	Luciferase reporter assay, qRT-PCR, Western blot	26959414
MIRT755393	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	28086904
MIRT755393	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	28086904
MIRT001175	hsa-miR-200a-3p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28302418
MIRT001175	hsa-miR-200a-3p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28302418
MIRT001175	hsa-miR-200a-3p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28302418
MIRT001175	hsa-miR-200a-3p	Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28302418
MIRT007031	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	26807179
MIRT025403	hsa-miR-34a-5p	qRT-PCR, Western blotting	33740991
MIRT524299	hsa-miR-142-3p	Immunocytochemistry (ICC), Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33643894
MIRT735887	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735887	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, in vivo gain/loss-of-function experiments	32641995
MIRT735887	hsa-miR-139-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), Immunofluorescence, ChIP-seq, qRT-PCR, In situ hybridization	32641995
MIRT736768	hsa-miR-496	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR, In situ hybridization	32318572
MIRT524299	hsa-miR-142-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32983253
MIRT307297	hsa-miR-548l	HITS-CLIP	23313552
MIRT704447	hsa-miR-875-5p	HITS-CLIP	23313552
MIRT704446	hsa-miR-3973	HITS-CLIP	23313552
MIRT704445	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT704444	hsa-miR-520h	HITS-CLIP	23313552
MIRT704443	hsa-miR-3688-5p	HITS-CLIP	23313552
MIRT704442	hsa-miR-891a-3p	HITS-CLIP	23313552
MIRT704441	hsa-miR-3144-3p	HITS-CLIP	23313552
MIRT704440	hsa-miR-7108-5p	HITS-CLIP	23313552
MIRT704439	hsa-miR-4474-3p	HITS-CLIP	23313552
MIRT704438	hsa-miR-607	HITS-CLIP	23313552
MIRT704437	hsa-miR-2113	HITS-CLIP	23313552
MIRT704436	hsa-miR-5010-3p	HITS-CLIP	23313552
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT307327	hsa-miR-7849-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	20371350
MIRT091935	hsa-miR-8062	PAR-CLIP	20371350
MIRT209910	hsa-miR-4255	PAR-CLIP	20371350
MIRT091932	hsa-miR-4765	PAR-CLIP	20371350
MIRT091926	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT524299	hsa-miR-142-3p	PAR-CLIP	23446348
MIRT091934	hsa-miR-5586-3p	PAR-CLIP	23446348
MIRT091935	hsa-miR-8062	PAR-CLIP	23446348
MIRT209910	hsa-miR-4255	PAR-CLIP	23446348
MIRT091932	hsa-miR-4765	PAR-CLIP	23446348
MIRT091931	hsa-miR-3591-5p	PAR-CLIP	23446348
MIRT755393	hsa-miR-181a-5p	Luciferase reporter assay, qRT-PCR, Immunofluorescence	35336965
MIRT756433	hsa-miR-146a-5p	qRT-PCR	36415628
MIRT914938	hsa-miR-1233	CLIP-seq
MIRT914939	hsa-miR-1324	CLIP-seq
MIRT914940	hsa-miR-1972	CLIP-seq
MIRT914941	hsa-miR-3129-3p	CLIP-seq
MIRT914942	hsa-miR-3619-3p	CLIP-seq
MIRT914943	hsa-miR-3682-5p	CLIP-seq
MIRT914944	hsa-miR-4251	CLIP-seq
MIRT914945	hsa-miR-4303	CLIP-seq
MIRT914946	hsa-miR-4329	CLIP-seq
MIRT914947	hsa-miR-4438	CLIP-seq
MIRT914948	hsa-miR-4453	CLIP-seq
MIRT914949	hsa-miR-4490	CLIP-seq
MIRT914950	hsa-miR-4496	CLIP-seq
MIRT914951	hsa-miR-4503	CLIP-seq
MIRT914952	hsa-miR-4535	CLIP-seq
MIRT914953	hsa-miR-4538	CLIP-seq
MIRT914954	hsa-miR-4687-5p	CLIP-seq
MIRT914955	hsa-miR-4690-3p	CLIP-seq
MIRT914956	hsa-miR-4705	CLIP-seq
MIRT914957	hsa-miR-4762-3p	CLIP-seq
MIRT914958	hsa-miR-4776-5p	CLIP-seq
MIRT914959	hsa-miR-5095	CLIP-seq
MIRT914960	hsa-miR-545	CLIP-seq
MIRT914961	hsa-miR-548an	CLIP-seq
MIRT914962	hsa-miR-548g	CLIP-seq
MIRT914963	hsa-miR-582-3p	CLIP-seq
MIRT914964	hsa-miR-618	CLIP-seq
MIRT914965	hsa-miR-624	CLIP-seq
MIRT914966	hsa-miR-634	CLIP-seq
MIRT914967	hsa-miR-127-5p	CLIP-seq
MIRT914968	hsa-miR-1276	CLIP-seq
MIRT914969	hsa-miR-141	CLIP-seq
MIRT914970	hsa-miR-200a	CLIP-seq
MIRT914971	hsa-miR-214	CLIP-seq
MIRT914972	hsa-miR-300	CLIP-seq
MIRT914973	hsa-miR-302f	CLIP-seq
MIRT914974	hsa-miR-3122	CLIP-seq
MIRT914975	hsa-miR-3137	CLIP-seq
MIRT914976	hsa-miR-3161	CLIP-seq
MIRT914977	hsa-miR-330-3p	CLIP-seq
MIRT914978	hsa-miR-3619-5p	CLIP-seq
MIRT914979	hsa-miR-381	CLIP-seq
MIRT914980	hsa-miR-3913-5p	CLIP-seq
MIRT914981	hsa-miR-3942-3p	CLIP-seq
MIRT914982	hsa-miR-4274	CLIP-seq
MIRT914983	hsa-miR-4282	CLIP-seq
MIRT914949	hsa-miR-4490	CLIP-seq
MIRT914984	hsa-miR-450b-3p	CLIP-seq
MIRT914985	hsa-miR-4519	CLIP-seq
MIRT914986	hsa-miR-4539	CLIP-seq
MIRT914987	hsa-miR-4635	CLIP-seq
MIRT914988	hsa-miR-4666-3p	CLIP-seq
MIRT914989	hsa-miR-4718	CLIP-seq
MIRT914990	hsa-miR-4731-3p	CLIP-seq
MIRT914991	hsa-miR-4753-3p	CLIP-seq
MIRT914992	hsa-miR-4768-5p	CLIP-seq
MIRT914993	hsa-miR-4789-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT914995	hsa-miR-4801	CLIP-seq
MIRT914961	hsa-miR-548an	CLIP-seq
MIRT914962	hsa-miR-548g	CLIP-seq
MIRT914996	hsa-miR-548n	CLIP-seq
MIRT914997	hsa-miR-548t	CLIP-seq
MIRT914998	hsa-miR-561	CLIP-seq
MIRT914999	hsa-miR-578	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT914963	hsa-miR-582-3p	CLIP-seq
MIRT915001	hsa-miR-640	CLIP-seq
MIRT915002	hsa-miR-657	CLIP-seq
MIRT915003	hsa-miR-761	CLIP-seq
MIRT915004	hsa-miR-769-3p	CLIP-seq
MIRT915005	hsa-miR-888	CLIP-seq
MIRT914967	hsa-miR-127-5p	CLIP-seq
MIRT914969	hsa-miR-141	CLIP-seq
MIRT1971412	hsa-miR-150	CLIP-seq
MIRT914970	hsa-miR-200a	CLIP-seq
MIRT914971	hsa-miR-214	CLIP-seq
MIRT914973	hsa-miR-302f	CLIP-seq
MIRT914975	hsa-miR-3137	CLIP-seq
MIRT1971413	hsa-miR-3149	CLIP-seq
MIRT914977	hsa-miR-330-3p	CLIP-seq
MIRT914978	hsa-miR-3619-5p	CLIP-seq
MIRT914982	hsa-miR-4274	CLIP-seq
MIRT914985	hsa-miR-4519	CLIP-seq
MIRT914987	hsa-miR-4635	CLIP-seq
MIRT1971414	hsa-miR-4668-3p	CLIP-seq
MIRT914989	hsa-miR-4718	CLIP-seq
MIRT914991	hsa-miR-4753-3p	CLIP-seq
MIRT1971415	hsa-miR-483-3p	CLIP-seq
MIRT1971416	hsa-miR-526b	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT1971417	hsa-miR-627	CLIP-seq
MIRT915002	hsa-miR-657	CLIP-seq
MIRT1971418	hsa-miR-668	CLIP-seq
MIRT915003	hsa-miR-761	CLIP-seq
MIRT914938	hsa-miR-1233	CLIP-seq
MIRT914967	hsa-miR-127-5p	CLIP-seq
MIRT914939	hsa-miR-1324	CLIP-seq
MIRT914969	hsa-miR-141	CLIP-seq
MIRT914940	hsa-miR-1972	CLIP-seq
MIRT914970	hsa-miR-200a	CLIP-seq
MIRT914971	hsa-miR-214	CLIP-seq
MIRT914974	hsa-miR-3122	CLIP-seq
MIRT1971413	hsa-miR-3149	CLIP-seq
MIRT914977	hsa-miR-330-3p	CLIP-seq
MIRT2207001	hsa-miR-3591-3p	CLIP-seq
MIRT914978	hsa-miR-3619-5p	CLIP-seq
MIRT914980	hsa-miR-3913-5p	CLIP-seq
MIRT914981	hsa-miR-3942-3p	CLIP-seq
MIRT2207002	hsa-miR-412	CLIP-seq
MIRT914947	hsa-miR-4438	CLIP-seq
MIRT914949	hsa-miR-4490	CLIP-seq
MIRT2207003	hsa-miR-4509	CLIP-seq
MIRT914984	hsa-miR-450b-3p	CLIP-seq
MIRT914987	hsa-miR-4635	CLIP-seq
MIRT914954	hsa-miR-4687-5p	CLIP-seq
MIRT914955	hsa-miR-4690-3p	CLIP-seq
MIRT914956	hsa-miR-4705	CLIP-seq
MIRT914991	hsa-miR-4753-3p	CLIP-seq
MIRT914992	hsa-miR-4768-5p	CLIP-seq
MIRT914959	hsa-miR-5095	CLIP-seq
MIRT1971416	hsa-miR-526b	CLIP-seq
MIRT914960	hsa-miR-545	CLIP-seq
MIRT914961	hsa-miR-548an	CLIP-seq
MIRT914962	hsa-miR-548g	CLIP-seq
MIRT2207004	hsa-miR-550b	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT914963	hsa-miR-582-3p	CLIP-seq
MIRT914964	hsa-miR-618	CLIP-seq
MIRT1971417	hsa-miR-627	CLIP-seq
MIRT914966	hsa-miR-634	CLIP-seq
MIRT915002	hsa-miR-657	CLIP-seq
MIRT2207005	hsa-miR-660	CLIP-seq
MIRT915003	hsa-miR-761	CLIP-seq
MIRT915004	hsa-miR-769-3p	CLIP-seq
MIRT1971412	hsa-miR-150	CLIP-seq
MIRT914972	hsa-miR-300	CLIP-seq
MIRT914979	hsa-miR-381	CLIP-seq
MIRT914981	hsa-miR-3942-3p	CLIP-seq
MIRT2207002	hsa-miR-412	CLIP-seq
MIRT914988	hsa-miR-4666-3p	CLIP-seq
MIRT1971414	hsa-miR-4668-3p	CLIP-seq
MIRT914990	hsa-miR-4731-3p	CLIP-seq
MIRT914993	hsa-miR-4789-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT914995	hsa-miR-4801	CLIP-seq
MIRT1971415	hsa-miR-483-3p	CLIP-seq
MIRT1971416	hsa-miR-526b	CLIP-seq
MIRT914999	hsa-miR-578	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT1971417	hsa-miR-627	CLIP-seq
MIRT915001	hsa-miR-640	CLIP-seq
MIRT1971418	hsa-miR-668	CLIP-seq
MIRT915000	hsa-miR-581	CLIP-seq
MIRT914944	hsa-miR-4251	CLIP-seq
MIRT914945	hsa-miR-4303	CLIP-seq
MIRT914946	hsa-miR-4329	CLIP-seq
MIRT914955	hsa-miR-4690-3p	CLIP-seq
MIRT914957	hsa-miR-4762-3p	CLIP-seq
MIRT914966	hsa-miR-634	CLIP-seq
MIRT914972	hsa-miR-300	CLIP-seq
MIRT2510204	hsa-miR-3121-3p	CLIP-seq
MIRT914941	hsa-miR-3129-3p	CLIP-seq
MIRT2207001	hsa-miR-3591-3p	CLIP-seq
MIRT2510205	hsa-miR-3613-3p	CLIP-seq
MIRT914942	hsa-miR-3619-3p	CLIP-seq
MIRT914979	hsa-miR-381	CLIP-seq
MIRT914950	hsa-miR-4496	CLIP-seq
MIRT914951	hsa-miR-4503	CLIP-seq
MIRT914952	hsa-miR-4535	CLIP-seq
MIRT914988	hsa-miR-4666-3p	CLIP-seq
MIRT914990	hsa-miR-4731-3p	CLIP-seq
MIRT2510206	hsa-miR-4733-5p	CLIP-seq
MIRT914958	hsa-miR-4776-5p	CLIP-seq
MIRT914993	hsa-miR-4789-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT914995	hsa-miR-4801	CLIP-seq
MIRT2207004	hsa-miR-550b	CLIP-seq
MIRT2207005	hsa-miR-660	CLIP-seq
MIRT2510204	hsa-miR-3121-3p	CLIP-seq
MIRT914941	hsa-miR-3129-3p	CLIP-seq
MIRT2207001	hsa-miR-3591-3p	CLIP-seq
MIRT2510205	hsa-miR-3613-3p	CLIP-seq
MIRT914942	hsa-miR-3619-3p	CLIP-seq
MIRT914950	hsa-miR-4496	CLIP-seq
MIRT914951	hsa-miR-4503	CLIP-seq
MIRT914952	hsa-miR-4535	CLIP-seq
MIRT2510206	hsa-miR-4733-5p	CLIP-seq
MIRT914958	hsa-miR-4776-5p	CLIP-seq
MIRT914994	hsa-miR-4796-5p	CLIP-seq
MIRT2207004	hsa-miR-550b	CLIP-seq
MIRT2207005	hsa-miR-660	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	18535113
ESR1	Repression	16628468
LEF1	Unknown	11326276
NELFCD	Repression	20735431
NKX2-5	Unknown	19479054
SIRT1	Repression	22245592
SOX6	Repression	21084391
TCF7L2	Unknown	24317174
TP53	Repression	19411072
ZNF24	Activation	24224020

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000165	Process	MAPK cascade	IEA
GO:0000209	Process	Protein polyubiquitination	IDA	29374064
GO:0000578	Process	Embryonic axis specification	IEA
GO:0000791	Component	Euchromatin	IDA	22723415
GO:0000791	Component	Euchromatin	IEA
GO:0000902	Process	Cell morphogenesis	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001221	Function	Transcription coregulator binding	IEA
GO:0001221	Function	Transcription coregulator binding	ISS
GO:0001222	Function	Transcription corepressor binding	IPI	30097457
GO:0001501	Process	Skeletal system development	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IMP	24023731
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001702	Process	Gastrulation with mouth forming second	IEA
GO:0001706	Process	Endoderm formation	IEA
GO:0001708	Process	Cell fate specification	IEA
GO:0001711	Process	Endodermal cell fate commitment	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	TAS	14679171
GO:0001840	Process	Neural plate development	IEA
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003266	Process	Regulation of secondary heart field cardioblast proliferation	IEA
GO:0003338	Process	Metanephros morphogenesis	IEA
GO:0003340	Process	Negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	9065402, 11751639, 12651860, 18193033, 22187462
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	12949260, 15905404
GO:0005102	Function	Signaling receptor binding	IPI	30683932
GO:0005515	Function	Protein binding	IPI	7890674, 8638126, 8663237, 9264463, 9601641, 9632714, 9707618, 10706604, 10725230, 10773885, 10825188, 10987273, 11401320, 11533658, 11590244, 11713475, 11713476, 11751639, 11790773, 11955446, 12297051, 12370829, 12408824, 12421363, 12734196, 12820959, 12927518, 14595118, 14600025, 1
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9707618, 10980594, 15040835, 16858403, 18193033, 18756595, 18787224, 19095296, 19187541, 20123964, 28829046, 29367600, 29739711, 29910125
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IDA	11751639
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	7806582, 9707618, 11793365, 12138115, 12937339, 12970740, 18787224, 19095296, 19591802, 22294297, 22467863, 29739711, 29910125
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	18086858, 20300119
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA	10980594, 19187541, 20123964
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	11790773, 12138115, 12970740
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	19151727, 19996314
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IDA	10403777, 10725230, 18086858, 19101069, 20086044, 22855531
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	IMP	22294297
GO:0005916	Component	Fascia adherens	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005929	Component	Cilium	IDA
GO:0005938	Component	Cell cortex	IDA	19038973
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IMP	19101069
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	18356165
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007398	Process	Ectoderm development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007403	Process	Glial cell fate determination	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007507	Process	Heart development	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	12970740
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEP	18291362
GO:0009948	Process	Anterior/posterior axis specification	IEA
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	IMP	29910125
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IGI	23983127
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	17072303
GO:0010909	Process	Positive regulation of heparan sulfate proteoglycan biosynthetic process	IMP	15853773
GO:0014704	Component	Intercalated disc	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	24862762
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	12072559, 22855531
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	IEA
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7650039, 18593713, 20302655, 28051089
GO:0016342	Component	Catenin complex	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	ISS
GO:0016600	Component	Flotillin complex	IEA
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0016922	Function	Nuclear receptor binding	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	12799378
GO:0016922	Function	Nuclear receptor binding	TAS	16344550
GO:0019827	Process	Stem cell population maintenance	TAS	22723415
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	11533658, 18356165
GO:0019900	Function	Kinase binding	IPI	8638126
GO:0019901	Function	Protein kinase binding	IEA
GO:0019902	Function	Phosphatase binding	IPI	20123964
GO:0019903	Function	Protein phosphatase binding	IBA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0022009	Process	Central nervous system vasculogenesis	IEA
GO:0022405	Process	Hair cycle process	IEA
GO:0030018	Component	Z disc	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA	19038973, 20412773
GO:0030054	Component	Cell junction	TAS	17047063
GO:0030097	Process	Hemopoiesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030331	Function	Nuclear estrogen receptor binding	IPI	15304487
GO:0030539	Process	Male genitalia development	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030877	Component	Beta-catenin destruction complex	IDA	8638126, 16188939, 18593713
GO:0030877	Component	Beta-catenin destruction complex	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0030902	Process	Hindbrain development	IEA
GO:0030997	Process	Regulation of centriole-centriole cohesion	IDA	18086858
GO:0031016	Process	Pancreas development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031253	Component	Cell projection membrane	IEA
GO:0031396	Process	Regulation of protein ubiquitination	IMP	15829978
GO:0031528	Component	Microvillus membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	EXP	12820959
GO:0031641	Process	Regulation of myelination	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	ISS
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032355	Process	Response to estradiol	IDA	15304487
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IEA
GO:0032991	Component	Protein-containing complex	IDA	22083958
GO:0032993	Component	Protein-DNA complex	IDA	10825188
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033234	Process	Negative regulation of protein sumoylation	IDA	22155184
GO:0034112	Process	Positive regulation of homotypic cell-cell adhesion	IGI	20123964
GO:0034332	Process	Adherens junction organization	IEA
GO:0034333	Process	Adherens junction assembly	IMP	20086044, 20123964
GO:0034394	Process	Protein localization to cell surface	IMP	20086044
GO:0034750	Component	Scrib-APC-beta-catenin complex	IEA
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035112	Process	Genitalia morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035315	Process	Hair cell differentiation	TAS	19251162
GO:0035995	Process	Detection of muscle stretch	TAS	30568254
GO:0036023	Process	Embryonic skeletal limb joint morphogenesis	IEA
GO:0036023	Process	Embryonic skeletal limb joint morphogenesis	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036520	Process	Astrocyte-dopaminergic neuron signaling	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	12651860, 12970740
GO:0043066	Process	Negative regulation of apoptotic process	IMP	12154096
GO:0043066	Process	Negative regulation of apoptotic process	TAS	23164821
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	29374064
GO:0043296	Component	Apical junction complex	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	19591802
GO:0043588	Process	Skin development	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	19996314
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IMP	18593713
GO:0044338	Process	Canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045294	Function	Alpha-catenin binding	IBA
GO:0045294	Function	Alpha-catenin binding	IEA
GO:0045294	Function	Alpha-catenin binding	IPI	7650039, 7890674, 23136403
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA
GO:0045296	Function	Cadherin binding	IEA
GO:0045296	Function	Cadherin binding	IPI	18287330, 18593713
GO:0045453	Process	Bone resorption	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	NAS	24847765
GO:0045603	Process	Positive regulation of endothelial cell differentiation	IEA
GO:0045667	Process	Regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045671	Process	Negative regulation of osteoclast differentiation	IEA
GO:0045743	Process	Positive regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0045765	Process	Regulation of angiogenesis	TAS	18756595
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	19653274
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12970740, 18787224
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	12949260
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9065402, 11751639, 12651860, 14660579, 18193033
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	15592430, 19328798
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	24115276, 24431302
GO:0045976	Process	Negative regulation of mitotic cell cycle, embryonic	IEA
GO:0045976	Process	Negative regulation of mitotic cell cycle, embryonic	ISS
GO:0046332	Function	SMAD binding	IPI	18593713
GO:0048145	Process	Regulation of fibroblast proliferation	TAS	16858403
GO:0048469	Process	Cell maturation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19038973
GO:0048489	Process	Synaptic vesicle transport	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048599	Process	Oocyte development	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	IMP	17122440
GO:0048664	Process	Neuron fate determination	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0050767	Process	Regulation of neurogenesis	NAS	23377854
GO:0050767	Process	Regulation of neurogenesis	TAS	24431302
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0051450	Process	Myoblast proliferation	IEA
GO:0051884	Process	Regulation of timing of anagen	IEA
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0060066	Process	Oviduct development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IDA	10644691, 11751639, 12937339, 19187541
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IGI	27846906
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	12154096, 17072303, 18193033, 24023731
GO:0060070	Process	Canonical Wnt signaling pathway	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	23164821
GO:0060173	Process	Limb development	IEA
GO:0060231	Process	Mesenchymal to epithelial transition	IMP	29910125
GO:0060439	Process	Trachea morphogenesis	IEA
GO:0060440	Process	Trachea formation	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060479	Process	Lung cell differentiation	IEA
GO:0060484	Process	Lung-associated mesenchyme development	IEA
GO:0060487	Process	Lung epithelial cell differentiation	IEA
GO:0060492	Process	Lung induction	IEA
GO:0060742	Process	Epithelial cell differentiation involved in prostate gland development	IEA
GO:0060767	Process	Epithelial cell proliferation involved in prostate gland development	IEA
GO:0060769	Process	Positive regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060789	Process	Hair follicle placode formation	IEA
GO:0060856	Process	Establishment of blood-brain barrier	IEA
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	IEA
GO:0061047	Process	Positive regulation of branching involved in lung morphogenesis	IEA
GO:0061154	Process	Endothelial tube morphogenesis	IMP	20123964
GO:0061198	Process	Fungiform papilla formation	IEA
GO:0061549	Process	Sympathetic ganglion development	IEA
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0061550	Process	Cranial ganglion development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IDA	12651860, 18193033, 18579517
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	15905404, 18936100, 19443654
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0070369	Component	Beta-catenin-TCF7L2 complex	IDA	9065401, 9065402, 12651860
GO:0070411	Function	I-SMAD binding	IPI	18593713
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IEA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IMP	20300119
GO:0071363	Process	Cellular response to growth factor stimulus	IMP	16858403
GO:0071664	Component	Catenin-TCF7L2 complex	IEA
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0071681	Process	Cellular response to indole-3-methanol	IEA
GO:0071944	Component	Cell periphery	IDA	19038973
GO:0072033	Process	Renal vesicle formation	IEA
GO:0072053	Process	Renal inner medulla development	IEA
GO:0072054	Process	Renal outer medulla development	IEA
GO:0072079	Process	Nephron tubule formation	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072182	Process	Regulation of nephron tubule epithelial cell differentiation	IEA
GO:0072182	Process	Regulation of nephron tubule epithelial cell differentiation	ISS
GO:0072497	Process	Mesenchymal stem cell differentiation	IEA
GO:0072497	Process	Mesenchymal stem cell differentiation	IMP	24023731
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090279	Process	Regulation of calcium ion import	IDA	19996314
GO:0090425	Process	Acinar cell differentiation	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	20123964
GO:0140297	Function	DNA-binding transcription factor binding	ISS
GO:1901331	Process	Positive regulation of odontoblast differentiation	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	IEA
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	ISS
GO:1905555	Process	Positive regulation of blood vessel branching	IMP	20123964
GO:1990138	Process	Neuron projection extension	IMP	19830702
GO:1990226	Function	Histone methyltransferase binding	IEA
GO:1990226	Function	Histone methyltransferase binding	ISS
GO:1990403	Process	Embryonic brain development	IEA
GO:1990711	Component	Beta-catenin-ICAT complex	IEA
GO:1990791	Process	Dorsal root ganglion development	IEA
GO:1990907	Component	Beta-catenin-TCF complex	IDA	28296634
GO:1990907	Component	Beta-catenin-TCF complex	IEA
GO:1990907	Component	Beta-catenin-TCF complex	IPI	11955446, 18936100, 20123964
GO:1990909	Component	Wnt signalosome	IEA
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:1990963	Process	Establishment of blood-retinal barrier	IEA
GO:2000008	Process	Regulation of protein localization to cell surface	IDA	19996314
GO:2000017	Process	Positive regulation of determination of dorsal identity	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 116806
• HGNC: 2514
• e!Ensembl: ENSG00000168036

Protein

• UniProt ID: P35222
• Protein name: Catenin beta-1 (Beta-catenin)
• Protein function: Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with
• PDB: 1G3J, 1JDH, 1JPW, 1LUJ, 1P22, 1QZ7, 1T08, 1TH1, 2G57, 2GL7, 2Z6H, 3DIW, 3FQN, 3FQR, 3SL9, 3SLA, 3TX7, 4DJS, 6M90, 6M91, 6M92, 6M93, 6M94, 6O9B, 6O9C, 6WLX, 6WNX, 7AFW, 7AR4, 7UWI, 7UWO, 7ZRB, 8EI9, 8EIA, 8EIB, 8EIC, 8RU3, 8RU4, 8VME, 8VMF, 8Y0G, 8Y0P, 8Y14, 8Z0U, 8Z10, 8Z5J, 8Z61
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00514	Arm	224 → 263	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	350 → 390	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	431 → 473	Armadillo/beta-catenin-like repeat	Repeat
  PF00514	Arm	583 → 623	Armadillo/beta-catenin-like repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Expressed in several hair follicle cell types: basal and peripheral matrix cells, and cells of the outer and inner root sheaths. Expressed in colon. Present in cortical neurons (at protein level). Expressed in breast cancer tissues (at
• Sequence:

  MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS
  QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
  NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
  KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
  VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
  LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
  GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA
  AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
  AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
  VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
  QLLYSPIENIQRVAAGVLCELAQDKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
  RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH
  SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
  L

• Sequence length: 781

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity	Pathogenic	rs886039332	RCV000984346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs2125645060	RCV001814516	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Absent speech	Likely pathogenic	rs1553632357	RCV000626747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adamantinous craniopharyngioma	Pathogenic; Likely pathogenic	rs121913400, rs121913396, rs121913403, rs121913412, rs28931588, rs28931589, rs121913413, rs121913399	RCV006253629 RCV006253632 RCV006253636 RCV006253641 RCV006253645 RCV006253647 RCV006253652 RCV006253654 RCV006253657 RCV006253662 RCV006253987 RCV006253992	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adrenal cortex carcinoma	Pathogenic; Likely pathogenic	rs587776850, rs121913412	RCV006253627 RCV006253639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adrenal cortex neoplasm	Pathogenic	rs121913400	RCV004808527	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical endometrial hyperplasia	Likely pathogenic	rs121913412	RCV003327294	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic liver disease	Likely pathogenic	rs2078513943	RCV001844881	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Calcifying nested epithelial stromal tumor of the liver	Likely pathogenic	rs121913412	RCV006253643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Pathogenic	rs587776850, rs121913400	RCV000019137 RCV000019138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic; Likely pathogenic	rs2078201673, rs2125623951, rs28931589, rs2078362331	RCV002246440 RCV002249849 RCV006252603 RCV001253306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Conspicuously happy disposition	Pathogenic	rs2078133150	RCV001849805	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CTNNB1-related disorder	Likely pathogenic; Pathogenic	rs797044875, rs775104326, rs886041281, rs1559477241, rs2125646355, rs758207378, rs2470787406, rs2470790178, rs2470857399, rs748294403	RCV004745260 RCV003417867 RCV003417873 RCV003416754 RCV003406134 RCV003402881 RCV003406094 RCV003402772 RCV004546847 RCV004545777	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CTNNB1-related syndromic intellectual disability	Likely pathogenic	rs2078356915	RCV001095731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoid disease, hereditary	Likely pathogenic	rs121913413	RCV004562216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoid tumor	Likely pathogenic; Pathogenic	rs121913412, rs121913409, rs121913407	RCV003447477 RCV006253666 RCV006253669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoid tumor caused by somatic mutation	Likely pathogenic	rs121913412	RCV000019143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Pathogenic	rs1553631860	RCV003126902	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Pathogenic; Likely pathogenic	rs587776850, rs121913412, rs121913413, rs121913409, rs121913407	RCV006253628 RCV006253640 RCV006253660 RCV006253665 RCV006253668	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Embryonal tumor with multilayered rosettes	Likely pathogenic; Pathogenic	rs121913403, rs121913400, rs121913413, rs121913409	RCV006253635 RCV006253651 RCV006253656 RCV006253661 RCV006253667	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 1	Pathogenic	rs1057519379, rs1057519380	RCV000416683 RCV000416893	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 7	Pathogenic; Likely pathogenic	rs2078435023, rs1057519380, rs886039332, rs1553631770	RCV001330863 RCV000495836 RCV001335878 RCV001283821	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gallbladder cancer	Pathogenic	rs121913409	RCV001374445	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Pathogenic	rs121913409	RCV006253664	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs748294403, rs1553632357	RCV002463684 RCV000626747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Likely pathogenic; Pathogenic	rs121913412, rs28931588, rs28931589, rs121913413	RCV000019142 RCV000019144 RCV000019146 RCV006253659	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs121913409, rs121913407, rs778624338, rs1553631896, rs1575320216, rs1575330336	RCV000019153 RCV000019154 RCV000987258 RCV000987260 RCV000987259 RCV000987261	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Imperforate anus	Likely pathogenic	rs1553632357	RCV000626747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs886039332, rs1064796453, rs1553631860, rs1575333081, rs2078151677, rs2078196892	RCV001260751 RCV005625632 RCV001260750 RCV000851507 RCV001260752 RCV001260749	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile nasopharyngeal angiofibroma	Pathogenic	rs28931588	RCV002221234	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs121913400, rs121913399	RCV003332083 RCV003332169	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Pathogenic	rs28931588, rs121913400, rs28931589	RCV000437074 RCV000019148 RCV000443977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma non-WNT/non-SHH	Likely pathogenic	rs121913412	RCV006253642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma non-WNT/non-SHH group 3	Pathogenic	rs28931588	RCV006253986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Likely pathogenic; Pathogenic	rs121913396, rs121913403, rs28931588, rs121913400, rs28931589	RCV006253630 RCV006253634 RCV006253644 RCV006253650 RCV006253653 RCV006253655	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephalic primordial dwarfism, Alazami type	Pathogenic	rs1553631860	RCV002286777	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic	rs1553632357	RCV000626747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs587776850, rs121913412, rs28931588, rs121913400, rs121913403, rs121913409, rs121913407	RCV004668736 RCV005229818 RCV004668737 RCV005229819 RCV006273062 RCV005229820 RCV004668738	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephroblastoma	Pathogenic	rs587776850, rs121913409	RCV000505566 RCV000505673	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2125640691	RCV002274330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1553631860	RCV001374918	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2125619553	RCV005925385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs121913403	RCV000019141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomatrixoma	Pathogenic; Likely pathogenic	rs121913400, rs121913396, rs121913403, rs28931588, rs28931589, rs121913413	RCV000019139 RCV000019140 RCV000030945 RCV000128842 RCV000019147 RCV000019149 RCV000019151 RCV000019152	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Prostate cancer	Likely pathogenic	rs28931589	RCV000149120	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Pathogenic	rs121913400	RCV006253649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
serous cystadenoma/endometrioid carcinoma	Likely pathogenic; Pathogenic	rs121913403	RCV006253637	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sertoli cell tumor	Likely pathogenic; Pathogenic	rs121913396	RCV006253633	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sertoli-Leydig cell tumor	Likely pathogenic; Pathogenic	rs121913396	RCV006253631	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability-progressive spastic diplegia syndrome	Likely pathogenic; Pathogenic	rs2125623360, rs2125623075, rs2125644627, rs2078436466, rs2125617859, rs2125637461, rs878960699, rs1212452748, rs2078362215, rs2125647138, rs2125622579, rs2125619523, rs2125617589, rs587777412, rs2125638080, rs2125639718, rs2470798474, rs2470826359, rs2470842274, rs2470846924, rs2470848814, rs2125619545, rs2470857118, rs2470774102, rs797044875, rs2470829140, rs863224864, rs1057519379, rs2125638106, rs2470791025, rs1369821061, rs2470829733, rs2470829269, rs775104326, rs886039332, rs886041281, rs886041553, rs750402920, rs2470784557, rs2470847156, rs2470847361, rs2125628162, rs2470790178, rs2470857414, rs2470835326, rs2125623951, rs2470849092, rs2125645129, rs2470788264, rs2078140157, rs1064796453, rs748294403, rs1131692181, rs1553630304, rs1553630279, rs398122907, rs397514554, rs376393123, rs1553632361, rs1553630507, rs1553631860, rs1559474364, rs1559468403, rs1559477241, rs1559470315, rs1559474966, rs1575339920, rs1575320216, rs1575316657, rs1575334103, rs1575315766, rs1454068577, rs2078160286, rs2078160335, rs2078141730, rs778624338	RCV005057352 RCV001788510 RCV001528147 RCV001766048 RCV001775250 RCV001775293 RCV001775340 RCV001775373 RCV001775399 RCV001775420 RCV001800251 RCV001808987 RCV001843753 RCV000119827 RCV002251085 RCV002272973 RCV002287867 RCV002290219 RCV002291361 RCV002310599 RCV002472213 RCV002472288 RCV004784067 RCV002512429 RCV002470806 RCV003314046 RCV000199502 RCV000495846 RCV003148236 RCV003153211 RCV000234865 RCV003223479 RCV003226727 RCV000415150 RCV000495849 RCV000985149 RCV001265460 RCV003147435 RCV003230970 RCV003236503 RCV003328078 RCV003397188 RCV003985117 RCV003405190 RCV003484460 RCV003494069 RCV004594706 RCV003991723 RCV003991990 RCV004594738 RCV001253207 RCV000851495 RCV000495837 RCV000500221 RCV000678281 RCV000032858 RCV000032859 RCV000032860 RCV001265236 RCV000677414 RCV000677408 RCV000678968 RCV000679960 RCV000681631 RCV000735215 RCV000735236 RCV000824816 RCV004796335 RCV000995750 RCV000995751 RCV001265237 RCV001169957 RCV001195546 RCV001253425 RCV001258339 RCV003336365	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Solid pseudopapillary neoplasm of the pancreas	Likely pathogenic; Pathogenic	rs121913403, rs28931589, rs121913413, rs28931588, rs121913399	RCV006253638 RCV006253648 RCV006253658 RCV006253663 RCV006253988 RCV006253993	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Synovial sarcoma	Likely pathogenic	rs28931589	RCV006253646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Teratoma	Likely pathogenic	rs1553632357	RCV000626747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANUS, IMPERFORATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CECAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	other	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CTNNB1-RELATED NEURODEVELOPMENTAL DISORDER AND/OR VITREORETINOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE VITREORETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMANGIOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased bone mineral density	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-EYE ABNORMALITIES-MICROCEPHALY-PERIPHERAL SPASTICITY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile type testicular granulosa cell tumor	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPATHIA STRIATA CRANIAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar ClinVar, HPO ClinVar, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERITONEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY, PROGRESSIVE SPASTIC DIPLEGIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR CALCIFICATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WEYERS ACROFACIAL DYSOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent antitragus	Absent Antitragus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	20503246, 21298772		★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	23850018		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	11522623		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15257703, 17148581, 17156404, 17614820, 24995804, 27987331		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28611040, 28978671, 29512829, 30305722, 30674535		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30140950, 30326193		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	23519466, 25248926, 29932919		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	12466115, 14578169, 15980970, 21761366, 22349813, 23560577, 24356780, 25355426, 26763580, 27903120, 27903124, 27903126, 28658279, 28840946, 29180744, 29625497, 30074466, 30616515, 30919136, 31200374, 31470408		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	CTD_human_DG	24413733		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenocarcinoma	Adenocarcinoma	BEFREE	10417756, 10545724, 10797268, 11026105, 11048797, 11170292, 11423974, 11943721, 12065775, 12163385, 12209953, 12651860, 12966349, 14647445, 14752418, 14970870, 15223963, 15513360, 15911235, 16479254, 17163846, 17947472, 17949785, 18246043, 18310088, 18491352, 18992165, 19173296, 20855955, 21602666, 21609933, 21894439, 21948089, 22721621, 23381389, 23686669, 24700283, 25073953, 25486432, 25602793, 26373808, 27498289, 28323438, 28356927, 28467793, 28552992, 29113722, 29434936, 29764708, 29951927, 30268445, 30510232, 30514297, 31242213, 31407221, 31704155, 9349237		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	10965019, 14507667, 15459021		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12209953, 12679314, 15660698, 16407829, 16501564		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	18042066, 27798885		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	12680208, 15623628, 19415720		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20686774, 29434936		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11170292, 15660284, 17572360, 22016777, 23224985, 23246962, 23702845, 24710410, 26268703, 28259951, 28368399, 28646916, 28713928, 28751441, 29141249, 29380446, 29525983, 29805633, 31616196, 31661124		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	24402132, 25536063		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	10965019, 14507667, 15459021		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	BEFREE	21323741, 27259009, 29224720, 29496310, 30053869		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	12754743, 15660284		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	11719457, 11943708, 12782598, 15592430, 15788657, 17986238, 19843521, 22766790, 31543512		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	10965019, 14507667, 15459021		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	10965019, 14507667, 15459021		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	15195113, 15943036, 29224720, 29275362, 29577164, 31105427		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	16865250		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10197610, 10681434, 10936679, 11062151, 11092973, 11148558, 11196159, 11238046, 11280770, 11309300, 11522744, 11751493, 11839557, 11956815, 12023580, 12871177, 12926124, 14986031, 15014011, 15647192, 15712188, 16299383, 16488993, 16496320, 17143260, 17234755, 17592150, 17854394, 18246041, 18268006, 18391979, 18419788, 18541010, 19173296, 19269007, 19450512, 19498322, 19745699, 19755524, 20010873, 20196079, 20447711, 20514431, 21282377, 22115830, 22266195, 22412046, 22771508, 22800756, 22864254, 23208952, 23246962, 24379239, 24590867, 24622886, 24735922, 24746201, 24846398, 24925057, 24997695, 25073953, 25216220, 25449630, 26038203, 26397949, 26663015, 26815163, 26867566, 27037682, 27296931, 27563825, 27780309, 27984126, 28234922, 28405879, 28467793, 28533663, 28548127, 28973103, 29148535, 29434936, 29551770, 29772067, 29789649, 30065304, 30154153, 30177706, 30955069, 8616874, 9566701, 9600336		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12297840, 12515622, 12737446, 17505512		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10197610, 11956815, 12527714, 12838317, 14710233, 15788729, 16705313, 17505512, 18414471, 20428811, 21170265, 21263241, 22082586, 23033009, 24379239, 25805023, 9024698, 9349236		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	21323741, 27259009, 29224720, 29463883, 29496310, 30053869		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	BEFREE	14614047		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10072352, 10192393, 10197610, 10213492, 10318916, 10359544, 10367940, 10398435, 10398436, 10485468, 10490837, 10528152, 10545404, 10549354, 10597266, 10666372, 10668214, 10698519, 10700176, 10709671, 10741284, 10749138, 10754205, 10759189, 10772417, 10782927, 10784639, 10797268, 10837025, 10862053, 10874025, 10894600, 10910037, 10936679, 10953028, 10987283, 11012986, 11048797, 11050151, 11092973, 11099951, 11193470, 11221869, 11226285, 11238048, 11238055, 11244511, 11263497, 11389074, 11396184, 11407474, 11409891, 11437403, 11437404, 11521200, 11522655, 11522744, 11592102, 11593435, 11676549, 11687966, 11689433, 11696422, 11746989, 11752446, 11774242, 11782388, 11788563, 11796830, 11823972, 11836553, 11856748, 11862214, 11896466, 11935128, 11950812, 11956815, 11986304, 12036951, 12057910, 12065775, 12086873, 12117880, 12147710, 12297840, 12408524, 12414510, 12414520, 12417602, 12447697, 12460462, 12606575, 12628243, 12756972, 12767988, 12833148, 12920223, 12955080, 12966349, 14502807, 14517582, 14531526, 14562278, 14639622, 14654913, 14660579, 14678957, 14679024, 14679305, 14710233, 14970870, 14986031, 15072829, 15107603, 15188000, 15190077, 15361208, 15380172, 15488029, 15538750, 15542524, 15557107, 15574752, 15580286, 15623481, 15641992, 15769611, 15788729, 15891929, 15905022, 15951972, 16023783, 16030090, 16131791, 16137866, 16151476, 16299383, 16378739, 16452189, 16474178, 16680592, 16705313, 16798748, 16885356, 16906516, 16982769, 17000760, 17028196, 17049664, 17121933, 17143298, 17149756, 17160433, 17172707, 17189293, 17227893, 17257127, 17395983, 17448021, 17510365, 17558858, 17572842, 17676483, 17721184, 17785554, 17909068, 17920061, 17952864, 17962810, 17968317, 17983804, 18075263, 18076571, 18097612, 18160396, 18224684, 18227724, 18387968, 18391979, 18474248, 18486530, 18488710, 18491352, 18521605, 18587328, 18591935, 18627596, 18632633, 18632876, 18670349, 18722078, 18774639, 18819930, 18854359, 19035286, 19148484, 19237556, 19376641, 19383900, 19415698, 19450512, 19569179, 19573802, 19597346, 19609274, 19749785, 19777185, 19779968, 19912361, 19966865, 20043299, 20110688, 20196079, 20368985, 20460455, 20545611, 20564245, 20594821, 20696052, 20844082, 20890287, 20955366, 20978149, 21115158, 21184732, 21279955, 21282377, 21398423, 21609933, 21807601, 21859464, 21880738, 21880954, 22034877, 22115830, 22120905, 22305464, 22372443, 22509309, 22513088, 22562294, 22722260, 22741528, 22751121, 22863622, 23011394, 23034650, 23087084, 23129580, 23135473, 23276799, 23405266, 23570874, 23621985, 23769888, 23838596, 23840886, 23941831, 24197976, 24200292, 24379584, 24423919, 24491301, 24496450, 24570042, 24722208, 24825889, 24832083, 24859161, 24931405, 24977433, 25270420, 25571954, 25645927, 25660336, 25799881, 25820106, 25885658, 25960217, 26028359, 26193883, 26439805, 26445050, 26446838, 26455321, 26804172, 26884349, 26910375, 26941395, 26973250, 27015438, 27062580, 27196752, 27470214, 27558955, 27679509, 28010732, 28075444, 28130546, 28137882, 28418912, 28429652, 28553956, 28578586, 28659575, 28731177, 28857796, 28916710, 29045831, 29080197, 29113300, 29115417, 29156563, 29238040, 29304823, 29337987, 29350052, 29391809, 29408853, 29436014, 29446530, 29467879, 29476741, 29533772, 29705714, 29805510, 29856981, 29923125, 30033597, 30110600, 30134915, 30177831, 30181617, 30197296, 30459318, 30569497, 30610557, 30620391, 30807699, 30945380, 31160382, 31257529, 31364752, 31461190, 31699039, 31723073, 7651399, 8616874, 8968744, 8990193, 9065401, 9065402, 9065403, 9210368, 9250146, 9500465, 9501226, 9515795, 9591632, 9600336, 9601641, 9663391, 9707618, 9721853, 9736021, 9823329, 9874785, 9973322, 9990071		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	LHGDN	12606575, 17090192, 17905526, 19061640		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	12833148, 14502807, 22120905		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	BEFREE	29233839		★☆☆☆☆ Found in Text Mining only
Adrenal Cortex Diseases	Adrenal Cortex Diseases	BEFREE	18647815		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	16140927, 17854394, 18419788, 18647815, 19684041, 21084400, 21565795, 21733995, 22800756		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	19863445, 22800756		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	16140927, 18544621, 19863445, 20978149, 21045685, 21088256, 21386792, 21565795, 23055545, 23409032, 25823656, 26312764, 27296931, 28114280, 29532999, 29730647, 29872083, 31561992		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22427816, 22496620, 24755523, 25078331, 25490274, 26515592, 27468715, 27589897, 27705928, 29283884, 29872083, 31561992, 31725643, 32522271, 32875319, 33564960, 33626208, 35279598, 35462410, 36671489, 37129912, 37185426, 37966258, 38155952	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	24747642		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	23437103, 24239766		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	23437103	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17148581, 27987331		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	15891929, 21636786, 21761366, 30616515		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30130730		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	10435629		★☆☆☆☆ Found in Text Mining only
Adult hepatocellular carcinoma	Liver carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	23483729, 23555187, 28807594		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15289331		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	30112810, 30382607		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10759189, 11585731, 12182422, 12209999, 12555076, 15176713, 16258095, 16988585, 17455096, 18688572, 19293793, 20479417, 21060032, 21150899, 21295689, 22722829, 22820256, 22832583, 23094051, 24791927, 24871706, 24894640, 27050100, 30374857, 31343993		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23474492, 25399296		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16920823, 23660959		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	26476672		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11891193, 15943036, 18647815, 19863445, 20959480, 20978149, 21088256, 21208995, 21565795, 22800756, 23409032, 23812285, 24590585, 24747642, 25490274, 25589272, 25823656, 27468715, 27589897, 29233839, 29428231, 29496310, 29532999, 29577164, 29670378, 29730647, 29808641, 29872083, 30367261, 30721134, 31057613, 31300257, 31338587		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	26011570	Associate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	17149756, 31792359		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	20233794, 28321536		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	27121450, 30096107		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	10834386, 14562278		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16306047, 20515496, 32035419, 36480537, 38069323	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	9790190		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	14578169, 16109989, 17096730, 18284543, 18486530, 28390135, 28658279, 31397928		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	14578169, 28390135, 28658279, 29388014, 32985799, 35840721	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28012947		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	28418912, 9591632		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27180807, 28463112, 31176720		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35750046, 36653804	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	36736597	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11477549, 20179324, 20474081, 22298781, 24073846, 24496925, 24871033, 28630428, 30075764, 30122901, 30535443, 30953666, 9990071		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	23235344		★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	20971814, 23153582		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	10213482, 15650354, 17131411, 23235344		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	28334814, 29906249		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	27121450, 30096107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	27381374		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	34821370	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	28277286	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	30257870	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	24390670, 24788118	Associate	★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	11238055, 17120309, 18227724		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	27369867		★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	12060722		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	30480741		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	26602520, 29419466, 30402833, 30816502, 31538414		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	30910249, 33115416	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	20814421, 22925330, 24700283, 24977327, 25082960, 25799022, 27203385, 27889647, 28977937, 29111166, 30405764, 31027497, 31217876, 31610265		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	25747895, 36171592, 39358545	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	28054444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anus, Imperforate	Imperforate anus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	28624572, 29737454, 30197587, 31823197		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28624572, 29737454, 30197587		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28062506		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35096137	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	37894814	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	35109802	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	10987273, 23033951, 30684266, 31719098		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	11891193, 15943036, 18647815, 19863445, 20959480, 20978149, 21088256, 21208995, 21565795, 22800756, 23409032, 23812285, 24590585, 24747642, 25490274, 25589272, 25823656, 27468715, 27589897, 29233839, 29428231, 29496310, 29532999, 29577164, 29670378, 29730647, 29808641, 29872083, 30367261, 30721134, 31057613, 31300257, 31338587		★☆☆☆☆ Found in Text Mining only
Aplasia of Lacrimal and Salivary Glands	Aplasia of lacrimal and salivary glands	Pubtator	19893038	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	15354419		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	BEFREE	26968164		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	26968164	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	21245375, 21254927, 23354045, 24086444		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	32046637, 32768677, 33670616, 37595583	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21527747, 28173817, 28219919, 29654763, 29724817		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	26587585, 30412852		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24782191	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31178673, 31854447, 33145365, 33463122, 34854396, 36596012	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21908588, 22579815, 26959414, 27624805, 27629364, 28943877, 29656209, 30261222, 30517707, 31602218		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35000533	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	Pubtator	33350591	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10935448, 12049819, 19576519, 20182836, 20300972, 22154485, 23328978, 25823657, 26654598, 29245912, 29399110, 30394013, 31849489		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	20182836, 22806482, 22919349, 23328978, 26654598	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	18703780	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21527747, 28173817, 28219919, 29654763, 29724817		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29104639		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30760287, 31545578, 35510412	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	21719789	Associate	★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	10924409	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	12635138, 19329935		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorder	Autism	Pubtator	27378147, 28575650, 31551593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20615089, 28575650		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22495309, 23160955, 28559284, 32619517, 39395167	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28184425		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16143398, 30374130, 31175348		★☆☆☆☆ Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1	Autoimmune polyendocrine syndrome type 1	Pubtator	27767239	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypophosphatemic rickets	Hypophosphatemic Rickets	BEFREE	23403405		★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	BEFREE	23403405		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15195109, 22427053, 22914623, 25738398, 26860078, 28586031, 29201214, 29769415, 29805590, 30127928, 30896826		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	22672427		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	11026105, 12203119, 23771323, 26297437, 30841855		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	26297437, 30144514, 30841855, 34818353	Associate	★☆☆☆☆ Found in Text Mining only
Basal Cell Neoplasm	Basal Cell Neoplasm	BEFREE	29224720		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	32811806	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	12297840, 25260568		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25719802, 28098905, 30594779		★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	21049553	Stimulate	★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	29426841	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	21237236, 28825729		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile duct disease	Pubtator	36480093	Associate	★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	31231124	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	11844064		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34392560	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	11309300, 12607585, 29416916		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	24594839, 35121803, 37341068	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20615089, 25041379, 29507296, 30280518		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	25041379, 29507296, 33398088	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30280518	Stimulate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11585741, 12394763, 16428476, 20818428, 22049531, 22226665, 22331730, 23447569, 24329492, 26069102, 26173102, 26369384, 27419371, 27472396, 28521777, 28705118, 28796367, 29501702, 29541396, 30015971, 30132983, 30229818, 30329043, 30415269, 30471109, 30527358, 30588263, 30953817, 31318608, 31431517		★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	32517078	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	19237556, 23737503, 24101380, 27908728, 28321124		★☆☆☆☆ Found in Text Mining only
Blue cone monochromatism	Blue cone monochromatism	Pubtator	35349735	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	16007344, 17900349, 20843343, 23281130, 25999350, 29158412, 29301038, 35184390, 35487243	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	28347990, 31173667, 31226638		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	26332075	Associate	★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	31370265		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	35454175	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	35676319	Stimulate	★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	14633602	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	20515496	Associate	★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	36402441	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12049819, 14612521, 17905526, 19582367, 19633924, 27292269, 27613837, 28717243		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	17905526, 21196339, 24933634, 25970776, 27613837, 29753700, 34986841, 36435833, 37920971	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	BEFREE	23240619		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	20215423		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10568816, 10741284, 10874025, 11179484, 11533658, 11712082, 12398896, 12439718, 12631383, 12750294, 14666652, 14712077, 15082903, 15469942, 15492240, 15753985, 15994955, 16273236, 17050667, 17143483, 17314492, 17420453, 17587808, 18283316, 18339854, 18490442, 18701415, 18708403, 19301122, 19576865, 19638211, 19661437, 20056651, 20126544, 20215423, 20395444, 20501844, 20507565, 20545611, 20693983, 20802536, 20830236, 21067528, 21076461, 21113658, 21317931, 21573501, 22026417, 22270359, 22484497, 22649545, 22705350, 22805760, 23302090, 23306204, 23417837, 23576562, 23767917, 24085799, 24190141, 24260469, 24401947, 24607787, 24897117, 24990246, 25056574, 25085904, 25209439, 25257174, 25353218, 25361981, 25499975, 25663530, 25755089, 26164002, 26285011, 26398662, 26460550, 26497855, 26514524, 26639233, 26676609, 26721716, 26750754, 26758430, 26805761, 26876203, 26896736, 26916619, 26992223, 27197202, 27208794, 27345400, 27507057, 27780144, 27926520, 27959422, 27983530, 28035400, 28096336, 28103884, 28114432, 28191619, 28279068, 28296189, 28408852, 28427223, 28474758, 28522609, 28533512, 28693189, 28713975, 28798698, 28819413, 28914191, 28965856, 28975625, 29162853, 29179185, 29286921, 29316252, 29356693, 29367600, 29383144, 29435071, 29444668, 29469819, 29471794, 29879416, 30032645, 30137666, 30186463, 30196303, 30228287, 30300682, 30320375, 30344009, 30445978, 30599914, 30633353, 30658681, 30697969, 30714168, 30738779, 30792381, 30809286, 30854682, 30880222, 30911062, 30941948, 30990947, 31095937, 31124219, 31171012, 31175550, 31206033, 31526439, 31545288, 31545416, 31564892, 31571495, 31604679, 31744448, 31773701, 7478552, 8548773		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	12165863, 25330770		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10759547, 11328805, 12398896, 12439718, 12750294, 12907143, 15082903, 15139049, 16003740, 17050667, 17897439, 18059161, 18059186, 18271926, 18283316, 18445773, 18546262, 18593979, 18708403, 19047049, 19244247, 19274078, 19461076, 19495794, 19638211, 19789364, 20040597, 20139903, 20215423, 20331626, 20507565, 20693983, 20696077, 20830236, 21113658, 21281808, 21505183, 21724833, 21772333, 21866566, 21935866, 21939504, 22026417, 22195040, 22270359, 22538770, 22649545, 22705350, 22805760, 23013158, 23516639, 23890219, 23914993, 24036252, 24209998, 24607787, 24801904, 24884479, 24897117, 24905570, 24934762, 24954509, 25068516, 25209439, 25315241, 25361079, 25361981, 25374215, 25422049, 25658913, 25663530, 25733818, 26011570, 26164002, 26285011, 26431176, 26460550, 26493994, 26514524, 26537584, 26617750, 26722422, 26758430, 26790955, 26823833, 26862065, 26908451, 27036017, 27045586, 27110560, 27188720, 27196739, 27208794, 27218469, 27281609, 27323693, 27424981, 27529753, 27644666, 27708215, 27902969, 27926520, 27983530, 28051254, 28099945, 28209486, 28337662, 28388578, 28464803, 28522609, 28527916, 28533512, 29162853, 29183346, 29183998, 29286921, 29316252, 29444668, 29471794, 29553100, 29968965, 30091683, 30196303, 30201862, 30223390, 30320375, 30336071, 30445978, 30569097, 30697969, 30714168, 30779084, 30864744, 30941948, 31175550, 31273950, 31436297, 31699102, 31773701, 31913290, 32101070, 32164620, 32186756, 32319619, 32329856, 32618411, 32651974, 32692756, 32811806, 32961031, 32983239, 33023375, 33173974, 33184243, 33237989, 33303690, 33308020, 33462997, 33478201, 33673112, 33746192, 34334123, 34706936, 34715882, 34837904, 34889158, 34932597, 35473571, 35796020, 36011273, 36067206, 36596527, 36614323, 36770598, 36799186, 36829181, 36949468, 37068562, 37100815, 37169737, 37499704, 37642235, 38155217, 38195458, 39463723, 40595045, 9139698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21665913	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24484510, 27941077, 29355514		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	27941077	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	37226398, 37679791	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	22874762, 24788418, 33713163, 36009051, 36281932	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	25349215		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	19233958, 23475579	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10595907, 10817505, 11021815, 11161379, 11226285, 11570580, 11792709, 11893906, 11920497, 11953860, 12378619, 12398896, 12402302, 12466115, 12466281, 12771132, 14566053, 14633602, 14645698, 15082903, 15375433, 15579438, 15647192, 15747065, 15810077, 16124054, 16474375, 16705313, 16731593, 16959035, 17121828, 17149756, 17663505, 17962194, 18414471, 18419788, 18566211, 18703780, 18794900, 18838381, 19091460, 19190323, 19289465, 19329935, 19520846, 19536879, 19924305, 20032387, 21247902, 21303971, 21336584, 21393996, 21521850, 21678109, 21691299, 21761366, 21892161, 21935866, 22120905, 22392736, 22496620, 22561517, 22777918, 22854964, 22964475, 23029137, 23086933, 23094073, 23573286, 23583560, 23592547, 23661344, 23840677, 23922913, 23954158, 24056964, 24324366, 24467841, 24504440, 24528029, 24622886, 24629143, 24656654, 24755523, 24801904, 24874735, 24949429, 24954509, 25106407, 25361079, 25502816, 25524937, 25600645, 25633809, 26029888, 26045816, 26240024, 26514524, 26567713, 26602384, 26614845, 27188720, 27218469, 27254743, 27334625, 27468715, 27479195, 27835592, 28054945, 28102204, 28117551, 28615517, 28656199, 28887549, 28935960, 29476053, 29551770, 29966001, 29968965, 30016378, 30053869, 30068336, 30186819, 30401720, 30484490, 30542715, 30792270, 30863050, 30927504, 31520555, 31527801, 31766223, 31888886, 32102509, 32651460, 32811441, 33341676, 33441906, 33458917, 33911067, 33987980, 34003820, 34167064, 34546849, 34719306, 34743203, 34753384, 34764821, 34890713, 34902334, 35247921, 35649359, 35662088, 36209041, 36209503, 36275697, 36382598, 36398031, 36609428, 36614323, 36800588, 37369481, 37508547, 37986152, 38195458, 39305951, 39986058, 9294210	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	15712207, 17320529, 22825745, 25413006, 29327707	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid, Goblet Cell	Carcinoma	BEFREE	14681318, 18042066		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10197610, 10391090, 10433945, 10549354, 10597262, 10910037, 11012986, 11048799, 11062151, 11092973, 11123760, 11125285, 11161379, 11193470, 11196159, 11238046, 11241321, 11280770, 11309300, 11407474, 11431710, 11478263, 11585741, 11696170, 11763318, 11857309, 11891193, 11956582, 11956815, 12023580, 12110635, 12198663, 12209953, 12220351, 12386812, 12605035, 12610504, 12648588, 12838317, 12866584, 12883680, 12912958, 12926124, 12966349, 14601048, 14647445, 14654529, 14688030, 14973118, 15006646, 15072829, 15513360, 15606674, 15630684, 15735754, 15761464, 15788657, 15911235, 16075282, 16394288, 16447040, 16705313, 16761624, 17234755, 17873895, 18006687, 18059186, 18282277, 18419788, 18491352, 18632876, 19384065, 19450512, 19498322, 19755524, 20395444, 20663899, 20693983, 20963473, 21076461, 21438909, 22160870, 22266195, 22276605, 22771508, 23624922, 24158497, 24384091, 24511551, 25602793, 25656989, 26038203, 26276776, 27729431, 28088268, 28107588, 28514307, 29133142, 29416916, 29975247, 30121369, 30524965, 30803215, 31836555, 9349236, 9349237, 9537226, 9707618, 9990071		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	11238046, 24511551, 32784485	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	12368205, 15195113, 32650834, 39780157	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	12707032, 14633602, 23284750, 24398989, 33972406	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	26503156, 36961748	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	19751508, 21935866, 30760857, 32758244	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	19751508, 19789364, 21935866	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	31417131	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	10391090, 10433945, 16461565, 18607832, 23295859, 23765252, 25214561, 25624430, 26431491, 28174789, 29795437, 30315273, 30782821, 33811207, 34420090, 35278272, 36695555, 37328769, 37655078	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10487827, 10595907, 10665646, 10980116, 11570580, 11752456, 11819825, 12200448, 12460462, 12692418, 12799639, 15832407, 16124056, 16496320, 17275129, 17291450, 17690210, 18030363, 18282277, 18313787, 18382662, 18701503, 19020503, 19089909, 19101982, 19401692, 19849855, 20716954, 21256126, 21615622, 21625435, 21691299, 21992464, 22493546, 22506042, 22524844, 22761862, 22962849, 23084586, 23098437, 23285165, 23437103, 23562475, 23728943, 23788652, 23822752, 24015284, 24089522, 24317053, 24325363, 24633918, 24716919, 24743216, 24798046, 24809782, 24910204, 24931142, 24940873, 24969559, 24988079, 25001176, 25021421, 25031739, 25071913, 25159915, 25171651, 25195135, 25248380, 25292076, 25311538, 25344678, 25491321, 25521761, 25536643, 25668819, 25822088, 25940701, 26045876, 26046304, 26159278, 26161394, 26252773, 26280346, 26347501, 26361959, 26404320, 26431491, 26498355, 26517516, 26571119, 26602384, 26715116, 26842923, 26965246, 27049492, 27100093, 27191501, 27248174, 27259866, 27276713, 27313491, 27420729, 27465549, 27468214, 27469330, 27602769, 27611941, 27661004, 27806083, 27851986, 27881216, 27901475, 28102846, 28284560, 28323122, 28328801, 28378640, 28639896, 28671046, 28843658, 28899352, 28969700, 29101368, 29276937, 29303508, 29351758, 29361949, 29487225, 29512829, 29620186, 29735783, 29950351, 29976634, 30026867, 30046100, 30082549, 30154476, 30249289, 30373752, 30566565, 30598371, 30672133, 30738047, 30807699, 30915743, 30929558, 30981110, 30996212, 31006667, 31067445, 31072445, 31094091, 31173963, 31385398, 31402556, 31440992, 31562861, 31568519, 31599408, 31599410, 31646557, 31717443, 31782257, 31796844, 31888604, 31955177, 31969493, 31970876, 32002283, 32017470, 32059741, 32113157, 32146796, 32148378, 32192213, 32201399, 32213661, 32236628, 32319540, 32354935, 32373215, 32521894, 32521895, 32536483, 32681102, 32700738, 32806748, 32829570, 32862578, 32873799, 32945289, 32945491, 33000250, 33063681, 33082400, 33090397, 33097693, 33112555, 33122451, 33130557, 33300278, 33336730, 33336733, 33407585, 33407720, 33542213, 33642822, 33667649, 33729094, 33760186, 33811251, 33827453, 33834612, 33922732, 33992698, 34174931, 34268946, 34299031, 34409922, 34429454, 34592239, 34761605, 34761606, 34767927, 34769098, 34777372, 34784846, 34902334, 35108614, 35121725, 35127344, 35132378, 35169125, 35170199, 35197323, 35280671, 35338348, 35349735, 35355983, 35414777, 35436415, 35567547, 35572840, 35576683, 35581180, 35637196, 35659630, 35748106, 35775648, 35844789, 35898502, 35958019, 35962322, 35995822, 36102438, 36153509, 36168627, 36189258, 36199046, 36275697, 36309506, 36317061, 36345477, 36382598, 36404439, 36471363, 36619232, 36634747, 36707504, 36735564, 36752127, 36764493, 36882021, 36999621, 37005078, 37099251, 37160416, 37311739, 37539742, 37573318, 37744383, 37769223, 37774837, 37839635, 38019243, 38036507, 38184822, 38285876, 38307410, 38626328, 39350022, 39448327, 39956588, 40069645, 40650279	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23463346, 30218633, 31878795, 34469466, 37494555	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	21935866, 23837653	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	24020724		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	21935866	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	15712207	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	23782331	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	19396152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11585741, 12394763, 14654529, 20818428, 22049531, 22331730, 23447569, 24329492, 26069102, 26173102, 26369384, 27419371, 27472396, 28521777, 28705118, 28796367, 29501702, 29541396, 29549123, 30015971, 30132983, 30229818, 30237499, 30329043, 30415269, 30471109, 30527358, 30588263, 30953817, 31318608, 31431517		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	30046398, 31269911		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11170292, 11464291, 17024233, 17660948, 18308762, 18372914, 18553167, 18692936, 20068157, 20572159, 21292787, 21933103, 22081448, 22407457, 22528942, 22912335, 23030416, 23086683, 23880650, 23983127, 24241961, 24448687, 24454854, 24498333, 24933634, 25036006, 25164010, 25396757, 25544258, 26122848, 27836540, 28076327, 28198062, 28368399, 28849055, 28883453, 28972040, 29050202, 29072692, 29137254, 29141249, 29393404, 29496538, 29562493, 29565490, 29739711, 29974605, 30097569, 30214594, 30396950, 30504718, 30970294, 31006666, 31074646, 31158229, 31562867, 31659154, 31741753, 31796785, 9864406		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	11531253, 16461565, 23605324, 24499657, 24816687, 26175151, 28332316, 28535511, 31337688, 32156068, 32681294, 33760208, 33804458, 34413913, 34590923, 34615547, 34790276, 36324187, 38087046	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	20529828, 22925330, 25799022, 26224368, 26240024, 27411302, 29386088, 32149084, 35673567, 36171592, 40274200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15330191, 16983094, 17873895, 19349352, 20074327, 20514858, 23094073, 23708097, 23975733, 24504440, 24914205, 25313256, 25658088, 25757764, 27589897, 27766950, 27981554, 28223537, 28251886, 28281968, 28718916, 29228417, 30379886, 30852945, 31485634, 31486486, 31486487, 31599407, 31900208, 32196582, 34484467, 34615547, 34627268, 34825321, 35122417, 36200301, 36739418, 36849889, 37024613, 37749865, 37927783, 38420990	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	25413006	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11271788, 12086851, 12707032, 14633602, 14752418, 15806138, 18455580, 18671846, 22526207, 22721621, 23778524, 23826417, 23999979, 24282295, 24715170, 24758269, 24966958, 25120767, 25966742, 26225651, 26617850, 26864590, 27498289, 29511369, 30816486, 31983178, 32453708, 32784485, 33280526, 34725203, 34764821, 36051475, 36780540, 38527980	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	18751438, 26192362	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	12014624, 12588368, 14633602, 15270885, 19012732, 19165927, 19384065, 21272562, 22458737, 23284750, 26095047, 28820907, 31300015		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	10965019, 14507667, 15459021		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	10391090, 10433945, 11048799, 11957146, 14747944, 15492994, 15668893, 15761464, 16021566, 16394288, 16429393, 19085831, 23765252, 28203752, 28718916, 30315273, 30702464, 31403731, 31543512		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	LHGDN	11957146		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	10965019, 14507667, 15459021		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	19786028, 26434631, 28246485		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10417756, 10739697, 11182035, 11531253, 12727850, 15911235, 17986238, 19957335, 21738044, 22232518, 23208497, 23605324, 24078348, 24244294, 24504219, 24954508, 25211326, 25377471, 26341496, 26455321, 27588493, 28090074, 28332316, 28440436, 28535511, 28650464, 28651933, 28967908, 29423068, 29486472, 30103006, 30310317, 30448218, 30537410, 30572097, 30967398, 31193124, 31653698, 31685298, 31770484, 31829231, 9537226		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	21466814		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	20693983		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	19688824		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	CTD_human_DG	22784439		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	15223963		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	19389926, 30194005, 32209061, 32623745	Associate	★☆☆☆☆ Found in Text Mining only
Cardiac fibroma	Cardiac fibroma	BEFREE	18078366		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27301468, 28069793, 28948000		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29207102	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17719840, 33407844	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	12963640		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	29394407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12963640, 18662704, 23708682, 26721716, 27301468, 28989026		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	29394407		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	36555252	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25436422		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25919636	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	21115158		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	28259981, 31366320, 32650720, 39940775, 40243895	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT 32, MULTIPLE TYPES	Cataract	CLINVAR_DG	24668549, 2614104, 27915094		★☆☆☆☆ Found in Text Mining only
Cecal Neoplasms	Cecal neoplasm	CTD_human_DG	14688030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	17888028, 30597986		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28664941	Associate	★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	17905526		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	17905526	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30797872, 31120770		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG	24668549, 2614104, 27915094		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	26156055		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	33350591, 36083290	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26538583, 31810470		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10780674, 11893906, 12883680, 19716018, 19857041, 26427870, 26560046, 27065319, 27081037, 27092879, 27513465, 28386346, 28627610, 28880275, 28902356, 29048651, 29130111, 29181101, 29959029, 29970906, 30466627, 30484490, 30547809, 30915737, 30939162, 31298313, 31327462, 31410143, 31666350, 31682716, 9218005, 9865919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	CTD_human_DG	25061499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	11520139, 29181101		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10780674, 11893906, 12883680, 19716018, 19857041, 26427870, 27065319, 27081037, 27092879, 27513465, 28386346, 28627610, 28880275, 28902356, 29048651, 29079964, 29130111, 29181101, 29959029, 29970906, 30466627, 30484490, 30547809, 30915737, 30939162, 31298313, 31327462, 31410143, 31666350, 31682716, 9865919		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	17148581, 27987331, 30535484		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	23483729, 23555187, 28807594		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	9927029		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	30112810, 30382607		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10759189, 11585731, 12182422, 12209999, 12555076, 15176713, 16258095, 16988585, 17455096, 18688572, 19293793, 20479417, 21060032, 21150899, 21295689, 22722829, 22820256, 22832583, 23094051, 24791927, 24871706, 24894640, 27050100, 30374857, 31343993		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23474492, 25399296		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	15288479, 18199552, 23798555, 25632187, 26058972, 26474277, 26501139, 27276713, 27618837, 30212390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	16311342, 22664794, 24549785, 24816558, 24889489, 25632187, 26056085, 26310932, 26501139, 29408647, 33436545, 33468537, 34181351, 34509526, 34799729, 35651328, 36028818, 37305391, 37486965, 37568083, 37576707, 37832404, 38082327, 39273408, 40064358	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis	Cholangitis	BEFREE	28349721		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	34997170	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	BEFREE	31489648		★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	16309224	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	17487939, 21615622		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	21615622	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	25864182		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	25144498, 29484408, 30125549, 31180539		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	25144498, 25262277, 26888362, 29484408, 31180539	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	35676319	Stimulate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	11729215, 24983247, 26888362	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	24209998	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15596224, 16467170, 28639477, 30396168		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	20596624		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	12060722		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	16815967	Stimulate	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	35349735	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34220309	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	30238685		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	21422242		★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	20798123		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29195902		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26808707, 28318623, 28343144, 28440442, 28578904, 29922171, 30298654, 31102786, 31181716, 31423730, 31452866		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	14973184, 19745069, 20618428, 22157808, 22672427, 24778153, 26005854, 27651098, 28762636, 30242258		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	27381374, 30582392		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21908588, 21980461, 26862784, 28245136, 28642260, 29659176		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30081034		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	31723061		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18171349, 19101982, 19462446, 20546333, 24798001, 28035485, 28854942, 30121369		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	29394407		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	28380362	Associate	★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	29549930		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	24442519	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31419083	Stimulate	★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	19169765	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36229517	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18223333, 19879273, 20580720, 24574339, 26047848, 26565021, 28145888, 28811707, 29330435, 31427737		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	33300557, 37477088	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	11920497, 24118792, 24379584	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	23967107	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10201372, 10507776, 10789716, 10837025, 11050151, 11398198, 11401329, 11522655, 11592095, 11676549, 11752446, 11774242, 11781281, 11896466, 11986304, 12147710, 12183361, 12185590, 12370429, 12414619, 12447697, 12460931, 12517779, 12555076, 12810642, 12912937, 12958170, 14500351, 14610217, 14612521, 15004225, 15017626, 15051498, 15558022, 15592505, 15665104, 15837931, 15979100, 16007183, 16273202, 16540637, 16570344, 16685408, 16735606, 16926625, 17030184, 17101323, 17189293, 17241872, 17557293, 17699774, 17875709, 17909039, 17909068, 18161931, 18260092, 18387968, 18397460, 18794900, 18852287, 18987336, 19010825, 19035286, 19075513, 19106159, 19190323, 19244345, 19353243, 19415698, 19460168, 19487278, 19520846, 19745699, 19749792, 19790197, 19808961, 20470206, 20501807, 20717765, 20736306, 20890287, 20950152, 20980803, 21390316, 21403839, 21584489, 21822311, 21852086, 21858154, 22104393, 22168384, 22170051, 22459450, 22460269, 22470507, 22640743, 22739727, 22961697, 23029025, 23243217, 23339186, 23349811, 23449499, 23520519, 23583560, 23624922, 23671587, 23817222, 23840886, 24104353, 24129564, 24268141, 24289544, 24379239, 24390805, 24467841, 24481461, 24496450, 24574339, 24651522, 24681249, 24722208, 24930890, 24999478, 25023701, 25073953, 25109331, 25149539, 25229241, 25337216, 25775405, 25885658, 25994220, 26189775, 26266404, 26267535, 26477307, 27089389, 27120392, 27196752, 27277835, 27641329, 28039460, 28109136, 28145888, 28218467, 28408316, 28467774, 28578586, 28657468, 28916833, 28947978, 28970068, 29033371, 29044515, 29058812, 29108267, 29167314, 29225578, 29255096, 29337987, 29364476, 29455637, 29457276, 29587241, 29606502, 29656061, 29730655, 29749530, 29794245, 29808797, 29923144, 29964340, 30082743, 30185549, 30560565, 30588252, 30618098, 30854043, 30944457, 31105882, 31111874, 31121307, 31262892, 31351496, 31471104, 31511060, 31698657, 31810923, 31812723, 7651399, 9065402, 9377556, 9990071		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	21205744, 27406052, 27462886, 29482503	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	10204808, 11602670, 12533679, 12912937, 15182426, 16474178, 16761624, 17404573, 19269007, 19652364, 20717765, 21569306, 22556201, 22751125, 22771508, 23376423, 23804703, 25060070, 28218467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	10699468, 11021815, 11470825, 11572874, 11696421, 11752446, 11857309, 12057910, 14645698, 15492751, 15795286, 16501564, 16570344, 16815967, 17210682, 17557293, 18367323, 19237607, 19784072, 20717765, 21625458, 22556201, 23121893, 24467841, 24704829, 25301365, 25885658, 26029888, 29988027, 31147591, 31533634, 31584928, 31811196, 35774798, 39494323, 40156418, 9990071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12398896, 12810642, 15215241, 15837931, 16378739, 17030184, 17128412, 17241872, 17638895, 17854061, 18161931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	12628520, 12800193, 14507667, 15459021, 17404573, 18283038, 21081470, 22323126, 9515794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	27406052, 9176391	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	31781302	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10318916, 10357817, 10383126, 10416591, 10502323, 10514384, 10700176, 10709671, 10749138, 10919662, 10936679, 10953028, 10974408, 11048799, 11087869, 11107173, 11313997, 11327702, 11396184, 11437404, 11526241, 11676549, 11707154, 11719433, 11733361, 11745187, 11751495, 11756231, 11839557, 11920497, 11939410, 11950953, 11953860, 12081197, 12111194, 12174887, 12185585, 12185590, 12408869, 12447697, 12610504, 12633551, 12830000, 12856716, 12871177, 12912937, 12912959, 14563124, 14563921, 14601048, 14639622, 14710233, 15014011, 15188000, 15245581, 15292388, 15340259, 15513360, 15557752, 15573917, 15592509, 15647192, 15716380, 15788729, 15951972, 15996024, 16042571, 16299030, 16356174, 16356838, 16489032, 16507986, 16523202, 16540637, 16570344, 16705313, 16773493, 16901974, 16906516, 16926625, 16953230, 17047077, 17101323, 17172707, 17183061, 17203186, 17297461, 17342324, 17360646, 17404573, 17448021, 17631641, 17710160, 17880935, 17906625, 17983804, 18177486, 18196974, 18365911, 18461655, 18488710, 18491352, 18592008, 18627596, 18794900, 19000900, 19019766, 19059704, 19124064, 19376641, 19412426, 19436058, 19609274, 19639167, 19658179, 19745699, 19790197, 19843521, 19912361, 19928352, 20043299, 20129645, 20454513, 20501702, 20507599, 20696052, 20711340, 20717765, 20823162, 20844082, 21108931, 21123622, 21170265, 21205878, 21303971, 21315419, 21317929, 21321609, 21343932, 21365650, 21393571, 21437251, 21478268, 21479692, 21484796, 21521850, 21561764, 21602666, 21678109, 21807601, 22080605, 22115830, 22154799, 22155184, 22168384, 22315403, 22337891, 22404718, 22431469, 22460269, 22465936, 22490519, 22668871, 22682314, 22863622, 22894902, 22902411, 22935204, 23029137, 23034650, 23155044, 23211288, 23227266, 23264463, 23337059, 23376423, 23405266, 23583404, 23583560, 23677445, 23698634, 23717499, 23783026, 23803691, 23811286, 23824743, 23836602, 23941831, 23983431, 24006069, 24086117, 24151146, 24162018, 24185900, 24244343, 24247718, 24303084, 24317174, 24403311, 24419084, 24423919, 24467841, 24481461, 24573322, 24626089, 24751002, 24825889, 24832083, 24882689, 24947187, 24952462, 24993644, 25003996, 25007066, 25060070, 25082960, 25107489, 25113996, 25131582, 25150783, 25313745, 25348333, 25371073, 25393365, 25464844, 25500543, 25500581, 25529012, 25571954, 25660336, 25684142, 25738398, 25775405, 25823027, 25915847, 25961950, 25994219, 26047848, 26156959, 26168479, 26210065, 26214628, 26224873, 26267535, 26296979, 26316041, 26316447, 26373808, 26398937, 26399194, 26439805, 26455321, 26477307, 26484565, 26490308, 26517809, 26619963, 26660958, 26713600, 26780942, 26804172, 26809274, 26810818, 26844272, 26884349, 26894286, 26910375, 26960970, 27007150, 27037061, 27195675, 27292638, 27294323, 27310872, 27329244, 27333864, 27440078, 27447746, 27463018, 27470214, 27487143, 27590223, 27619912, 27662365, 27758879, 27765918, 27789274, 27835580, 27835604, 27865466, 27919747, 27930552, 27983919, 28010732, 28057765, 28109136, 28130546, 28145888, 28165564, 28177905, 28178650, 28179481, 28209947, 28229932, 28259917, 28330603, 28356933, 28371398, 28373572, 28390865, 28416735, 28423670, 28523736, 28534366, 28578586, 28639895, 28678825, 28708138, 28739692, 28740336, 28811361, 28829046, 28859077, 28881809, 28887549, 28939743, 29035371, 29039496, 29058812, 29075139, 29113182, 29135090, 29137318, 29141249, 29146051, 29158786, 29167314, 29197069, 29245969, 29330435, 29337987, 29344178, 29364477, 29380230, 29383790, 29391154, 29434936, 29457276, 29467879, 29483216, 29541213, 29551399, 29551770, 29563608, 29663476, 29666061, 29674637, 29689565, 29738066, 29758216, 29765542, 29772067, 29789528, 29802196, 29884842, 29888202, 29932918, 29943808, 29956073, 30004146, 30005681, 30016378, 30019915, 30029779, 30036518, 30052060, 30061944, 30082743, 30083271, 30097457, 30154153, 30158634, 30173892, 30177831, 30188700, 30231258, 30250601, 30338942, 30357011, 30365932, 30374053, 30375302, 30389319, 30413483, 30459318, 30472235, 30535429, 30548112, 30555158, 30570110, 30623367, 30655833, 30662799, 30679176, 30693973, 30738693, 30792270, 30806153, 30813948, 30842178, 30896885, 30904616, 30909473, 30965636, 30970512, 30974224, 30987669, 31002361, 31010374, 31015802, 31040884, 31064356, 31078045, 31081084, 31095674, 31111874, 31112017, 31118796, 31208298, 31213086, 31228451, 31233902, 31251006, 31257454, 31262892, 31292489, 31305647, 31319122, 31333311, 31370857, 31471585, 31484922, 31485167, 31497251, 31501414, 31516589, 31614769, 31641225, 31666198, 31699039, 31718480, 31723073, 31731194, 31774672, 31804558, 31815051, 31819794, 9259402, 9377556, 9500465, 9515795, 9591632, 9721853, 9990071		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	10965019, 12907644, 21291235, 25280562		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	9065402		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10197610, 10416591, 10493496, 11454429, 11956815, 12036905, 12036951, 12414520, 12417602, 14871816, 14973118, 15235586, 16091738, 17291450, 18076571, 18951899, 18992165, 19134005, 19659606, 19928352, 22108803, 22337891, 22682314, 22894902, 23112547, 23266556, 24481461, 24623448, 26619963, 27254743, 27758879, 28708826, 30132512, 30177831, 30472235, 31427737, 9349236, 9591632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10318916, 10347231, 10362114, 10507776, 10514384, 10607566, 10646887, 10737795, 10817505, 10896949, 11470825, 11526241, 11707154, 11752446, 11920497, 11953860, 12060769, 12147710, 12387883, 12398896, 12408868, 12414520, 12460462, 12467060, 12610504, 12706873, 12771132, 12799639, 12838317, 14563921, 14566053, 14645698, 14719508, 15004225, 15154912, 15188006, 15233950, 15331612, 15389251, 15542433, 15557752, 15570051, 15647192, 15788729, 15837931, 15928669, 16051228, 16054165, 16124054, 16299030, 16328068, 16504081, 16705313, 16798748, 16815967, 16901974, 16948518, 17121828, 17167838, 17278192, 17291450, 17360646, 17361206, 17430902, 17641414, 17710160, 17848589, 18161931, 18171984, 18196974, 18414471, 18461655, 18487207, 18516290, 18538736, 18592008, 18609711, 18630466, 18794809, 18794899, 18794900, 18838381, 18932285, 18952824, 18992165, 19064714, 19067193, 19091460, 19134005, 19190323, 19298008, 19487278, 19520846, 19655379, 19659606, 19686745, 19745699, 19749792, 19790197, 19898961, 20032387, 20043299, 20065031, 20122401, 20141613, 20208143, 20348951, 20460455, 20696052, 20705583, 20716954, 20717765, 20980803, 21071513, 21108931, 21170265, 21247902, 21279955, 21303971, 21331989, 21350711, 21393996, 21478268, 21521850, 21574102, 21678109, 21764279, 21807601, 21901162, 22012768, 22022540, 22034905, 22053859, 22072622, 22099930, 22104393, 22108803, 22168803, 22460269, 22471451, 22509309, 22529687, 22544606, 22581840, 22668871, 22739727, 22745173, 22874833, 22875147, 22894902, 23029025, 23029137, 23085758, 23086933, 23112547, 23238650, 23319804, 23322982, 23337059, 23349017, 23405266, 23442321, 23538439, 23558963, 23583560, 23629521, 23637971, 23661344, 23836602, 23844215, 23983431, 24009080, 24129564, 24151146, 24240237, 24244343, 24256736, 24268141, 24303084, 24317174, 24324366, 24415879, 24423919, 24467841, 24651522, 24696416, 24874735, 24885829, 24930890, 25034524, 25083765, 25107489, 25229241, 25313745, 25352148, 25386960, 25396735, 25409929, 25412312, 25500543, 25569743, 25590830, 25659031, 25675535, 25683913, 25753001, 25788273, 25961950, 25966221, 25973035, 26041882, 26110611, 26189775, 26214628, 26224368, 26281861, 26331352, 26408312, 26415221, 26445050, 26450645, 26484565, 26490308, 26713600, 26722439, 26797410, 26804172, 26809274, 26810818, 26820603, 26868975, 26884349, 26894286, 26909603, 26965643, 27008710, 27058759, 27195675, 27208794, 27245242, 27254743, 27292638, 27310872, 27440078, 27453420, 27462886, 27463018, 27482906, 27531891, 27543871, 27563825, 27578919, 27607135, 27613840, 27619912, 27662365, 27696107, 27709738, 27765918, 27851986, 27901475, 27908290, 27983919, 28010732, 28081740, 28086904, 28164117, 28165564, 28177905, 28178650, 28268248, 28272990, 28295012, 28337019, 28367998, 28416735, 28440426, 28523736, 28534366, 28552992, 28587207, 28615517, 28675510, 28678825, 28708138, 28772260, 28803443, 28811361, 28825597, 28849076, 28859077, 28887549, 28926134, 28968471, 29044515, 29115590, 29135090, 29141249, 29164578, 29183322, 29304823, 29364476, 29364477, 29380230, 29426374, 29453334, 29510987, 29551770, 29730655, 29747501, 29749530, 29784906, 29794245, 29843798, 29849451, 29886791, 29945573, 29949151, 29966001, 30015876, 30015909, 30016378, 30068336, 30072583, 30082743, 30097457, 30135139, 30148686, 30186819, 30231258, 30338942, 30403259, 30548112, 30556859, 30569135, 30570856, 30618098, 30635359, 30792270, 30833544, 30970512, 30987669, 31002361, 31078045, 31081084, 31095674, 31112017, 31118579, 31147591, 31173256, 31233902, 31243121, 31253108, 31364752, 31392276, 31448663, 31467172, 31527801, 31533620, 31534175, 31540078, 31570702, 31614769, 31675361, 31690625, 31693094, 31698657, 31699039, 31718480, 31723073, 31733641, 31781302, 31781361, 31804558, 31811196, 31838484, 31876604, 31881079, 31961998, 31965704, 32076059, 32102509, 32103872, 32150830, 32179092, 32206063, 32239671, 32260268, 32268968, 32285989, 32355204, 32481626, 32495870, 32594834, 32608200, 32626954, 32651460, 32669593, 32669835, 32811441, 32889785, 32994691, 33029691, 33065966, 33115416, 33130557, 33148262, 33237662, 33266494, 33300054, 33300106, 33331430, 33337350, 33361107, 33450304, 33484818, 33596920, 33607955, 33608451, 33795652, 33817713, 33824271, 33987980, 33994850, 34108518, 34138730, 34214117, 34218653, 34257613, 34273236, 34288405, 34307685, 34337054, 34373442, 34396427, 34420031, 34610014, 34676872, 34713301, 34719306, 34741399, 34753384, 34830168, 34841662, 34890713, 34929577, 34954189, 34997691, 35014953, 35040131, 35054980, 35247921, 35322763, 35328403, 35354355, 35617032, 35649359, 35658755, 35662088, 35697349, 35710032, 35723049, 35762092, 35783013, 35864528, 35907983, 35944058, 35955891, 36008464, 36012568, 36047191, 36055981, 36069229, 36124643, 36148682, 36172687, 36192575, 36202073, 36287177, 36293473, 36295658, 36307841, 36362141, 36364474, 36375353, 36382598, 36423688, 36445120, 36453240, 36480537, 36575468, 36603684, 36609428, 36613564, 36703617, 36734282, 36750557, 36833408, 36982333, 37067340, 37096864, 37203394, 37271822, 37303493, 37305399, 37341560, 37358854, 37369481, 37404825, 37439412, 37463866, 37477088, 37512045, 37530655, 37595345, 37620362, 37626036, 37686224, 37884620, 37998393, 38132944, 38166604, 38273088, 38310229, 38359148, 38499482, 38566304, 39456850, 39494323, 39768127, 40156418, 9294210, 9484818, 9601641, 9990071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	10965019, 12907644, 21291235, 25280562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11920497, 11953860, 12209953, 14977843, 15102686, 15126105, 15254684, 15289833, 15331612, 15888491, 16124054, 16356174, 16507986, 16953230, 17168211, 17203186, 17641414, 18538736, 18591935, 18609711, 18949395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18219106, 21577209, 23573286, 24622886	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	11733361, 23760948, 24415879, 28548127, 29371329, 32102509, 32376735, 33115416, 34003820	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30268125		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	16467170		★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	28069793		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	28417262, 30940474		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	17219201, 33084842	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	11844064		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24429522, 30221891		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	23822562, 25632187, 27618837, 29547757		★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	27020209		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myasthenic syndrome ib	Congenital myasthenic syndrome	Pubtator	33721619, 39768127	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	23382209		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27301468, 30238685, 30689763		★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	21084400, 28102204, 29016532		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	24087794, 28102204, 29726953		★☆☆☆☆ Found in Text Mining only
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	BEFREE	23629955		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	19169765	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11012986, 11780196, 12796377, 18949430, 18950731, 20814228, 22516360, 23094073, 23588815, 23893409, 25658088, 26456834, 27501523, 27572476, 28223537, 28260916, 28846080, 28969047, 29549930, 30566575, 30844790, 31485634, 31516388, 31729097		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	30991049		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	27018842, 29259894		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19602881, 29190815		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	38139440, 38581999	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	38139440	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30760879		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	38296633	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	Pubtator	12466115, 14578169, 18540944, 21761366, 22086512, 23344868, 24413733, 25412847, 26198262, 26927026, 28486603, 28709442, 29509940, 30616515, 30919136, 33967180, 34922552, 35707464, 37854185	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Craniopharyngioma	Craniopharyngioma	BEFREE	15221941, 15891929, 15980970, 18540944, 20128632, 21636786, 21761366, 22086512, 24413733, 26927026, 28069929, 28500561, 28709442, 29396598, 29546640, 30616515		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Craniopharyngioma	Craniopharyngioma	CTD_human_DG	24413733		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Craniopharyngioma	Craniopharyngioma	ORPHANET_DG	24413733		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Craniopharyngioma	Craniopharyngioma	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Craniopharyngioma	Craniopharyngioma	CLINVAR_DG	25157968		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Craniopharyngioma, Child	Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15017626, 18223333, 19398441, 26891258, 30597986		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22393312, 23967107, 31729323	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36444838	Inhibit	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	18419788, 34489873	Associate	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	19863445, 27296931, 28911199		★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	30927287		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	11351304, 11950921, 28161440		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	15891929		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	27588407, 30639531		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	31664087	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	30265301		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	23001567		★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	16803534	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19481076, 19810105, 20392258, 20650323, 20840015, 23237804, 24034904, 24096177, 24184155, 24658359, 24819053, 25065588, 26071314, 26352263, 26818776, 26945831, 27018594, 27539752, 28085114, 28238906, 28723343, 28916968, 28926590, 29039525, 29217163, 29415892, 29555825, 29686224, 29907764, 30050432, 30119032, 30280762, 30782019, 30808932, 30912140, 30942447, 31034758, 31075235, 31155960, 31564232, 31757676, 31837247		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	29350052, 30273050		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35327643	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	25383518, 29490303, 29688389, 29737454		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	27769064	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	30642981		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	31043173		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	31043173		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	11796830, 15054469, 15542524, 15913427, 17090192, 18587328, 18832571, 22766794, 23035734, 23913621, 23960186, 24390670, 24788118, 26171757, 26686699, 28418912, 29330550, 29705714, 30980399, 32651460, 33213169, 33444924, 33810291, 33914771, 34526110, 34590610, 35038826, 35180772, 36240209, 37104792, 37318496, 37377751, 37943631, 9250146, 9736021	Associate	★☆☆☆☆ Found in Text Mining only
Desmoid disease, hereditary	Desmoid Disease, Hereditary	BEFREE	8968744		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoid tumor	Desmoid tumor	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoid Tumor Caused By Somatic Mutation	Desmoid Tumor	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Desmoid Tumors	Desmoid tumor	Pubtator	39881334	Associate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26968164, 27915094, 28867142, 33264726, 33350591, 36083290, 37895192, 38225558, 38364504, 39951836	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	27915094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11430833, 19073772, 23273980, 24633315, 27838104, 28135705, 29581743, 29749571		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32434530, 37608294	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11430833, 19073772, 23273980, 24633315, 27838104, 28135705, 29135090, 29581743, 29749571, 29857981		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25811776, 27411103, 27838104, 29135090, 29749571, 37246239, 37728820	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34697343	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19732438, 26083111, 27484798, 30212457, 38096208	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27766367, 28756222, 28982588, 30296017, 30518745, 31301073, 31568613		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23617586, 25498973, 26083111, 27766367, 28807051, 30212457, 31048369		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	24227537	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28216152		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	34483150	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	26697505, 31957842	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21613219, 21876774, 24455745, 26697505, 27571062, 28277542, 28315733, 28370212, 29572435, 29581743, 30784349, 30794428		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	27999189, 30610453		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	26241451, 26537717	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	16942611	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	31456244		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22427053, 22768080, 30130730, 30739786, 31631067		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	20215350		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	30640974, 31529323		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	26573569	Associate	★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	27915094		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15192323, 31086297		★☆☆☆☆ Found in Text Mining only
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	27049492	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	12679314, 23347178		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	12679314, 23347178		★☆☆☆☆ Found in Text Mining only
Duodenitis	Duodenitis	Pubtator	15623495, 32770675	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	16942611, 18958538, 20676061	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren Contracture	BEFREE	20676061		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG	24668549, 2614104, 27915094		★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	BEFREE	31442808		★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	15476271, 23575763		★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	26241451, 34564680	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11719191, 15713948, 15866163, 15866164, 18334222, 1999432, 21903672, 22110128, 22495309, 22682243, 23033978, 23499309, 24431282, 24614104, 24668549, 25326669, 25533962, 27915094, 28575650, 8227220, 8582267, 9060476		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36153650	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	17962810, 28418912	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	18711353	Stimulate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	11891193, 24143938, 27468715, 27589897, 32875319, 35563746, 38296633	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	23838596		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	12439748, 16160475, 21564416, 22276609, 25214561, 26431491, 30702464		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	20574529	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	19222307		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	31482846		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	31442808		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	27196739, 32875319	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10076565, 10411147, 10416591, 10671680, 11385321, 11407474, 11957146, 12068170, 12439748, 12708483, 15361208, 15481028, 15492994, 15806138, 15951972, 16160475, 17219201, 17468517, 17607667, 18165946, 18550572, 18798221, 19270644, 19329935, 19737954, 20799950, 22955108, 23135473, 23295859, 23760948, 24042437, 24966918, 25168372, 25214561, 25686835, 28039713, 28174789, 28424422, 28622040, 29348629, 29795437, 30093563, 30702464, 30715091, 30850842, 30910249, 31032220, 31410201, 31533968, 31543512, 31632077, 8639463, 9721853		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Diseases	Endometrial Diseases	BEFREE	31410201		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	10411147, 11161379, 30782821, 31403731		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	11161379, 19329935, 24289604, 25144715, 30782821	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10076565, 11161379, 12015762, 12497652, 12708483, 15111320, 15361208, 15736420, 15806138, 16803534, 17219201, 17504383, 18431720, 18607832, 19056846, 19270644, 19329935, 22383975, 22653804, 23295859, 23760948, 23943160, 24042437, 24966918, 26722522, 28039713, 28174789, 28281553, 28424422, 29164582, 29769480, 29795437, 30126180, 30289582, 30452118, 30910249, 31355251, 31533968, 31562818, 31790621, 31865530, 31892849, 32376735, 32376737, 32652986, 33720082, 33946426, 34318590, 35108035, 35278272, 35796805, 36035375, 36614043, 37116166, 37567170, 38096983, 38211843, 38513273, 40311467	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15806138, 17504383		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26367784	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	15307134, 18376386, 18580489, 19622417, 31569185		★☆☆☆☆ Found in Text Mining only
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	BEFREE	19898427		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	17418409, 23276799, 24018808, 26276776, 30326146, 31022415		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	23765252		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	12587534, 18295959, 19137776		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15761464, 20410224, 24018808, 24124596, 26044826, 26276776, 27009232, 28075439, 29018948, 29229305, 29462326, 31022415		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19898423, 24661731, 29462326, 29630856, 30428062, 31560827, 32667746, 33305626, 33817715, 35012617, 35327987, 36991319, 37867352	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35239721	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoblastoma	Ependymoblastoma	BEFREE	21073496		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	16843107		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30053675		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29436118, 30265301, 31745212		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11531253, 17986238, 23208497, 23605324, 24504219, 25377471, 28332316, 28651933, 28967908, 29423068, 30310317, 31770484, 31829231		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	12209953, 15257703, 16741972, 19269007, 21609933, 21636786, 21983638, 22749188, 24511551, 28695795		★☆☆☆☆ Found in Text Mining only
Esophageal and Gastric Varices	Esophageal and gastric varices	Pubtator	36264285	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	12498294, 14752418, 16114033, 17309796, 17552014, 20236666, 20868558, 22938416, 23359356, 24022664, 27414086, 28325828, 29343267, 30155836, 30483745, 30880778		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	12478897, 16114033		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	12498294, 14752418, 16114033, 17309796, 20236666, 20868558, 23359356, 24022664, 27414086, 28325828, 30483745, 30880778		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	14752418, 17309796, 17552014, 19448414, 20236666, 20868558, 22246236, 22938416, 24022664, 24073846, 25888911, 26647768, 26722596, 26738870, 27600761, 28132116, 29760376, 30880778, 30990378, 32035486, 32588681, 33493132, 34160902, 34638639, 35484214, 35879265, 35893895, 36289198, 36815135, 37500660, 9707618	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12532436, 15484291, 17309796, 17552014, 18455580, 19448414, 20193114, 20491588, 20603606, 21049553, 21525190, 22870241, 25217103, 25375090, 26045816, 26738870, 27270324, 27721245, 27902974, 29760376, 29771416, 29949155, 30402846, 30551519, 30556869, 30816445, 30990378, 31638260, 31722716, 31742924, 31917882, 32699215, 33432363, 33538099, 34057837, 34866524, 35484214, 35587162, 35799142, 35893895, 36289198, 36290884, 37768180, 39511268, 40211274	Associate	★☆☆☆☆ Found in Text Mining only
Esophagitis	Esotropia	Pubtator	22870241	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	32392180	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	29386236		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	24700283		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Exostoses	Exostoses	Pubtator	35676319	Stimulate	★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26501139		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	30690078		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	28689265		★☆☆☆☆ Found in Text Mining only
Exudative vitreoretinopathy	Exudative Vitreoretinopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	ORPHANET_DG	28575650		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Exudative vitreoretinopathy 1	Exudative Vitreoretinopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EXUDATIVE VITREORETINOPATHY 7	Exudative vitreoretinopathy	GENOMICS_ENGLAND_DG	28514307		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EXUDATIVE VITREORETINOPATHY 7	Exudative vitreoretinopathy	UNIPROT_DG	28575650		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EXUDATIVE VITREORETINOPATHY 7	Exudative vitreoretinopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Eye Abnormalities	Eye abnormalities	Pubtator	33350591	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10574364, 11104755, 14636889, 18063474, 18239458, 18466334, 19114997, 9930863		★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	22028395		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	14633602	Associate	★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	28211206, 28575650		★☆☆☆☆ Found in Text Mining only
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	ORPHANET_DG	28575650		★☆☆☆☆ Found in Text Mining only
Familial exudative vitreoretinopathy	Exudative Vitreoretinopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	29416661, 30906632		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	27188753	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	24469828		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	24469828	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	24469828		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	27907035	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29512829		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	33992698	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31419514		★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	33382535	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	17072826, 22768200, 23517922, 27407137, 27898339, 29066531, 30458994, 31043173		★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	29162699		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	LHGDN	17558858		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	10834386, 11455002, 11823972, 18715618, 20197769, 20693983, 22211293, 23020601, 23027341, 25838078, 28821190, 29288580, 29881291, 30008823		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Abdominal	Fibromatosis	BEFREE	23020601		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	10597266, 10655994, 10782927, 11313976, 11437409, 11592102, 11796830, 11823972, 15540161, 15542524, 15674349, 16007344, 16131791, 16153468, 17135276, 17160433, 17407603, 17558858, 17601559, 17721184, 17785554, 18715618, 18722078, 18832571, 19436199, 20232483, 20841474, 21323417, 21468052, 21826666, 21859899, 21884214, 22034877, 22305464, 22372443, 22744289, 22766794, 23020601, 23913621, 23960186, 24206198, 24325833, 24788118, 25174682, 25341748, 25899770, 26171757, 26414222, 26645457, 26666421, 26686699, 26861905, 26894649, 26907785, 27062580, 27259010, 27713418, 28027119, 28418912, 28627792, 28794344, 28851389, 28881160, 29330550, 29705714, 29795437, 29901254, 30292627, 30528042, 31043173, 31165043, 31804402, 8968744, 9250146, 9736021		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	LHGDN	17090192, 17601559, 18832571		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	CGI_DG			★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	18807072		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15516984, 17229887, 26825774		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	21047994		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24242045, 24691643, 27832641, 28302418, 28391277, 28791396, 29535048, 30308992, 30326962, 30885249, 31272073		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	15921235		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	40055364	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12107263, 15095272		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11696170, 12605035, 27840971		★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal dysplasia	Pubtator	38296633	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	36578035	Stimulate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	38110419	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	12023580, 12469220, 12866584, 23319036, 23665284, 25676706, 26715268, 29540696, 31811866		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	17341890		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	16309224, 23319036, 24739824, 26715268, 32839463, 34362903, 35900539, 36656209	Associate	★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	11455002, 19573802, 20232483, 23020601		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	24197976, 29512701, 30501604, 30593147		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	24528029	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	25967717	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	24528029	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	15138556		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	14970870, 24481601	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	11238048, 21447180, 25333257, 33130557	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	12952568, 15374945, 23045279, 31342636		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28027119, 28611108, 29295963, 29371979, 31043173		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	33048845	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29198828, 29301038, 31816052		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	29198828, 29301038	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	31816052		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11408932, 18158575, 30390643		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	11163116, 21275459, 27986126		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	31043173		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	19324500		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	28547961, 35927428	Associate	★☆☆☆☆ Found in Text Mining only
Glandular Neoplasms	Glandular Neoplasms	BEFREE	31154393		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	39337505	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	18242184, 20872274, 20969832, 21454620, 22652173, 23230963, 23319157, 23826359, 23897632, 24810017, 25241897, 25764520, 25991372, 26063413, 26222502, 26271668, 26654598, 26708597, 26932501, 27196759, 27959385, 28445937, 28615958, 28739720, 28858851, 29065410, 29138341, 29212798, 29313411, 29360452, 29399110, 29848673, 29948952, 30127865, 30206363, 30425057, 30442596, 30843345		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18242184, 21321483, 23295773, 23319157, 23761169, 23776187, 23826359, 25197356, 25349993, 26108996, 26271668, 26473829, 26654598, 27345717, 28086236, 28445937, 30394013, 30940290, 31410187, 31888886, 32495889, 32943609, 33000268, 33154193, 33238230, 33671112, 33857857, 33941107, 33942556, 34072831, 34288811, 35562953, 35599254, 36234681, 36435833, 37149563, 37175205, 37243590, 37443071, 37779078, 38069906	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	18242184, 20872274, 20969832, 21454620, 22652173, 23295773, 23319157, 23408876, 23826359, 23897632, 24810017, 25241897, 25349993, 25764520, 25991372, 26063413, 26222502, 26271668, 26654598, 26708597, 26932501, 27196759, 27959385, 28445937, 28615958, 28739720, 28858851, 29065410, 29138341, 29212798, 29313411, 29360452, 29399110, 29848673, 29948952, 30127865, 30206363, 30425057, 30442596, 30843345, 31387280		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10980594, 19001441, 20300972, 20888802, 20969832, 21221726, 21636708, 22630347, 23229386, 23416699, 23761169, 23906498, 24785374, 24863942, 24876153, 24913705, 24931370, 25301232, 25672607, 25681036, 26222502, 26255203, 26317904, 26452219, 26654598, 26708597, 26781164, 26860959, 27006177, 27081861, 27108836, 27166258, 27613837, 27656836, 27713156, 27783990, 27903708, 27909720, 28160566, 28232512, 28388562, 28594935, 28643150, 28858851, 28962630, 29268818, 29340016, 29393392, 29436621, 29463646, 30018719, 30066885, 30208924, 30272277, 30277583, 30373123, 30425057, 30431207, 30498093, 30503496, 30552850, 30826985, 30863050, 30964174, 31167206, 31171769, 31758290		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Glioma	Pubtator	21321483, 22093097, 23696788, 23761169, 24083766, 24740456, 24913705, 25007077, 25345514, 26108996, 26317904, 26397053, 26473829, 26654598, 26708597, 27334625, 27613831, 27613837, 27656836, 27713156, 27903708, 27909726, 28061901, 28160566, 28187755, 28472177, 28717243, 28837560, 29268818, 29271996, 29990993, 30431099, 30552850, 30678307, 30842215, 30863050, 30927504, 30964174, 31040265, 31173296, 31355268, 31402274, 31888886, 32507767, 32533688, 32735016, 33000268, 33161527, 34036399, 34056009, 34080022, 34474120, 34657400, 34923953, 35012441, 35044082, 35213267, 35450028, 35545654, 35645127, 35996510, 36227125, 37101376, 37149563, 37408388, 37427890, 37438359, 37796789, 38099414, 38232867	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma	Glioma	Pubtator	29463646	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
gliosarcoma	Gliosarcoma	BEFREE	26932501		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24668549, 28514307		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis	Glomerulonephritis	Pubtator	28578904	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	20485333, 27730700, 32791747	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	29095481		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	16230381, 19875303, 21860425, 29788434		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31309540	Associate	★☆☆☆☆ Found in Text Mining only
Hamartomatous polyposis	Hamartomatous polyposis	BEFREE	11103790		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	28343223		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	17764107, 23730900, 25524937, 26713771, 27765354, 29771197, 31089983		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16648762, 23730900, 25524937, 31833149, 37445628	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	10749862	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27301468, 30689763		★☆☆☆☆ Found in Text Mining only
hemangiopericytoma	Hemangiopericytoma	BEFREE	25431235, 25482924, 26645457, 29736797		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	CTD_human_DG	13678655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangiosarcoma	Hemangiosarcoma	BEFREE	31252633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	17949810, 21318952	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19351774, 25788321, 27347699		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	15257703		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	22576689, 23966864		★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	29039446		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	15921235, 16196383, 17483958		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	16196383	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	28341391		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	28341391		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	27939373	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	36882021	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	27276713, 30111572	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	30268125	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	10595907	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	27276713	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	10398436, 10698519, 10754205, 10934159, 11276007, 11309340, 11666046, 12101426, 12203220, 12649343, 14654913, 14692643, 14767485, 15221005, 15958610, 16314847, 16465377, 16465411, 16937357, 17047077, 17163162, 17283120, 17962810, 19646548, 21237236, 21992464, 22152854, 22613727, 22749188, 24459012, 24837480, 24912477, 25135868, 25695679, 26715116, 27734029, 27910913, 28277286, 28631020, 28851352, 29079173, 29088718, 29446530, 29528187, 29920228, 30794805, 30794807, 30863496, 31462641, 31511432, 31547062, 31597698, 31645895, 9927029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Hepatoblastoma	Pubtator	10934159, 12466281, 12649343, 17962810, 21992464, 25695679, 26715116, 27910913, 28277286, 28851352, 28923827, 32189106, 32240714, 33125945, 33651649, 34235580, 35645102, 35900540, 37070251, 37992967, 38285876, 39900120	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Hepatoblastoma	LHGDN	17962810		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Hepatoblastoma	CTD_human_DG	21237236		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Hepatoblastoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Hepatoblastoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	12203220, 12297840, 16496320, 17535860, 17569132, 17663417, 17997499, 20357450, 20393147, 23046672, 23084586, 24276407, 24735922, 24743216, 24997695, 25195525, 25260568, 26205181, 26336998, 26608415, 27469330, 27939373, 28280721, 28506364, 28618047, 28733222, 29256857, 29687774, 30052636, 30901310, 31570768, 31698521, 31836555		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	CTD_human_DG	21147764		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30967268		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	17852416	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	11437404, 12398896, 23890219, 38195458	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22392736	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	BEFREE	23071139, 30745422		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	20583256		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	14770182, 15270885, 29054489		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	BEFREE	25498973		★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	BEFREE	15647192		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10493496, 10936679, 11733361, 15647192, 15788729, 15951972, 16030090, 22080605, 24196786, 26960970, 28548127		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	31107992		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15289331		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20531388, 22531500, 23669348, 24634145, 24960609, 25747711, 29894684		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	16467170	Inhibit	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	16565489	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	26252618, 26397949, 26815163, 28102204, 28405879, 30085035, 31000732, 33287648, 34385710, 40302475	Associate	★☆☆☆☆ Found in Text Mining only
Hyperekplexia	Hyperekplexia	Pubtator	26968164	Associate	★☆☆☆☆ Found in Text Mining only
Hyperexplexia hereditary	Hyperexplexia hereditary	Pubtator	26968164	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	21237163, 21448924, 30257243, 30787185, 31628816		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28977053		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	33350591	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopic astigmatism	Hyperopic astigmatism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	18044981, 26163537		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism 2	Hyperparathyroidism	Pubtator	35454175	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	18541010, 27760455	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	17047023, 18541010, 22576020, 27760455		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	27071708		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	24913829, 35410639	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	37328769	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	28102204, 28416583	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	31309540	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19462446, 21237163, 26808707, 28102204, 28802159, 29884931, 29895976, 30472885, 30710617		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	22513174, 26123554, 35946454	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	26278392		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypomineralization of enamel of tooth	Hypomineralization Of Enamel Of Tooth	BEFREE	30066216		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	23403405		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	21636786, 30085028, 30125608		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	28191619		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	34545858	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20336693, 24301659, 24423919, 27656836, 27941077, 32216582, 36093941	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21466614, 25347326, 27036044, 27093376	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21906872, 26965643, 28126478, 29207102, 29348564, 32426814, 32481626, 32608501, 34484235, 37394639, 37943631, 37967992, 38010845, 38626328	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	34859100	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	16733209, 28292937		★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	22298781		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26787464, 27188753, 28704260, 31773709		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12707032, 18478089, 20061390, 20650998, 22642910, 27586205, 29355514, 29567077		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	12707032, 20061390, 20650998, 22642910, 26545977, 26997628, 27586205, 32362107	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18478089	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	27188753		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20485333, 27730700		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27576056		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35349735	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11751530, 24124596, 27827829		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24614104, 29804228		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	27852007		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	30806528	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	10700430, 20208143, 30186819	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18711353	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27601169		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	11431364, 12032865, 30899591		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	30642981		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	19427668		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24303071, 24614104, 25326669, 26968164, 27915094, 28514307, 28575650, 30929091, 31131404		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26340334, 26968164, 27915094, 28575650, 30929091, 38364504	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial Cystitis	Interstitial Cystitis	BEFREE	21422242		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	26820815, 28756222		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	28332316, 31481088, 32016951, 33090383, 34015763, 35960109, 36746221, 37031322	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	28756222, 30296017		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	CTD_human_DG	10223192		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	22168384, 27046831, 27835699		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	16080494	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	32669593	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	CTD_human_DG	10223192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	10604738, 18455124, 24516707	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	10894600, 11158322, 16288056, 19208363, 20110688, 22080605, 22723415, 24419084, 25745996, 27207656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	21394719		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	11557787, 26033745, 26056085, 28043904, 30520117		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	18662704, 19145675		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	28341391		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	30186819	Stimulate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	33843785	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31810470		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	24782191		★☆☆☆☆ Found in Text Mining only
Juvenile polyp	Polyp	BEFREE	15557107		★☆☆☆☆ Found in Text Mining only
Juvenile Polyposis Coli	Juvenile polyposis syndrome	BEFREE	15557107		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	24993644		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	LHGDN	12592400		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29432739, 31838186		★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	28963928, 29042209		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	33288782	Associate	★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	20195877		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	31078446		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20381006, 21816937, 24040439, 24465439, 26697505, 28578904, 37108249	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21280006, 23001567, 23850018, 27441654, 30298654, 31226638		★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	23001567	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29802483		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23337059	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	22622501, 29237155, 29389516, 29802483, 30919150, 31452866		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28866419, 29195902		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	12511557, 24258344, 30528740		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22180573, 25757764, 29633893, 29991691, 31486486, 33846795, 34974812, 35147974	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	26968164, 30929091, 36790797	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	BEFREE	30046398		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	24833089, 28122350	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26040764, 26511677, 29250652, 29467869, 29768138		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	19622417		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	19094982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	29394407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	22768200, 24534281, 26820714, 29348564, 30458994, 31761932, 32892998, 33036796, 34614511, 35118811, 39519092	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	17072826, 19622417		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23334251	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	21305049		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12127563		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12130512, 15306667, 19101069, 20797387, 20835687, 21669058, 22207684, 22858986, 23519466, 23707389, 24086728, 24339928, 25248926, 25622682, 26147002, 26202934, 26333776, 29059232, 31122263, 32225105	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16763212, 20795789, 21103407, 22482506, 22858986, 26580584, 27322774, 27766528, 27858992, 28184923, 28251886, 28440457, 28611040, 30257344, 30740945, 31119862, 31746437		★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	17949810	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	12130512, 18483256, 30630973	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19127593, 20795789, 21669058, 22706399, 22858986, 24498085, 25622682, 26592252, 27248172, 28361855, 28445932, 30556883, 30630973, 31167387, 31173171, 31648321, 32068780, 32232394, 32426817, 33341676, 33463129, 34083850, 34431643, 34516354, 35780585, 35984200, 36436494, 36520954, 39570105	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	LHGDN	17949810		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15257703, 16688229, 17851558, 18217891, 20795789, 21339756, 22714993, 22858986, 23867056, 24429522, 24598054, 25293777, 25940713, 26010294, 27296951, 27858992, 28611040, 28978671, 29463558, 29484122, 29496308, 29512829, 29805763, 30106181, 30305722, 30630973, 30674535, 30862962, 31097000, 31167387, 31429973, 31698089		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	27125305		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	26521987		★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	19015733		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	19622417		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12963979, 15791567, 20302655, 21781452, 23840677		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	19281774		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	12204056		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	12204056, 22300273	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	12204056		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	CLINVAR_DG	24668549, 2614104, 27915094		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10201372, 10435629, 10487827, 10595907, 10597262, 10665646, 10700176, 10811985, 10980116, 11169521, 11238187, 11280770, 11429783, 11443619, 11477549, 11526492, 11570580, 11752456, 11819825, 11857309, 12095925, 12101426, 12198663, 12203220, 12375019, 12439747, 12601349, 12603528, 12640682, 12830000, 12883492, 12969793, 14517842, 14687479, 14729607, 14767485, 15064734, 15067328, 15067380, 15151624, 15170655, 15288479, 15305374, 15480989, 15580286, 15698401, 15795286, 15814635, 15965925, 16098625, 16121349, 16285938, 16314847, 16465377, 16465411, 16496348, 16799625, 16897741, 16964294, 17030191, 17143510, 17283120, 17291450, 17487939, 17510384, 17657734, 17663417, 17690210, 17785413, 17964517, 17983802, 18030363, 18171349, 18214995, 18246041, 18282277, 18294932, 18313787, 18313840, 18429952, 18577996, 18592156, 18720004, 18922122, 19035462, 19101982, 19290490, 19303159, 19383900, 19411833, 19706825, 19723656, 19778454, 19849855, 19887546, 20460486, 20538055, 20546333, 20549546, 20603246, 20716954, 20725905, 20811694, 21061181, 21093092, 21303380, 21391741, 21457159, 21615622, 21617877, 21643019, 21691299, 21701780, 21743491, 21822615, 21834755, 21835143, 22110662, 22213192, 22249261, 22251704, 22276989, 22296502, 22351518, 22540002, 22761862, 22811581, 22962603, 22962849, 23030478, 23046672, 23063663, 23068095, 23084586, 23087084, 23098437, 23265488, 23358852, 23437103, 23449122, 23483729, 23555187, 23583669, 23651211, 23785431, 23788652, 23822752, 23879168, 24018051, 24214913, 24276407, 24379610, 24633918, 24643625, 24716919, 24735922, 24798046, 24809782, 24837480, 24878698, 24892551, 24940873, 24946283, 24950290, 25001176, 25012536, 25016225, 25021421, 25072259, 25109821, 25135868, 25171651, 25195135, 25260311, 25266280, 25313882, 25333742, 25401330, 25430888, 25449213, 25516669, 25521761, 25536643, 25537506, 25553423, 25650661, 25661872, 25668519, 25668819, 25684142, 25701229, 25708809, 25783764, 25792709, 25813403, 25940701, 26033745, 26034368, 26046304, 26099527, 26134322, 26205181, 26237271, 26252773, 26289556, 26311355, 26341700, 26359353, 26361959, 26517516, 26553052, 26602384, 26683365, 26707164, 26778753, 26783250, 26811628, 26942873, 26968103, 27090017, 27100093, 27109804, 27191501, 27239797, 27248174, 27259866, 27276713, 27420729, 27431312, 27469330, 27618837, 27661004, 27666874, 27829235, 27851986, 27869648, 27881216, 27911878, 27919960, 27984126, 28012864, 28018099, 28035485, 28043904, 28067792, 28107588, 28241806, 28277286, 28323122, 28328801, 28356931, 28429652, 28454295, 28454439, 28488786, 28498415, 28509806, 28525379, 28532995, 28548306, 28548956, 28578348, 28578939, 28631187, 28645563, 28648520, 28754618, 28807594, 28843658, 29024409, 29027712, 29029464, 29066512, 29094287, 29181057, 29242604, 29256857, 29286082, 29303508, 29331390, 29353494, 29383099, 29386044, 29429512, 29467897, 29483096, 29525529, 29540185, 29552781, 29552782, 29560932, 29618288, 29620186, 29649004, 29650531, 29653269, 29654759, 29693167, 29747752, 29859044, 29864897, 29949741, 29950351, 29981747, 30022048, 30026867, 30041665, 30046100, 30075764, 30083256, 30086882, 30201494, 30230592, 30242023, 30243081, 30248355, 30249289, 30268125, 30310256, 30319277, 30338037, 30377095, 30419856, 30453289, 30468709, 30503555, 30541713, 30555042, 30566242, 30572006, 30583072, 30598371, 30617138, 30672133, 30678274, 30712167, 30713111, 30737831, 30747223, 30794613, 30804458, 30842141, 30901310, 30930222, 30936461, 30953666, 30955069, 30983867, 30996212, 31004883, 31015417, 31017316, 31059752, 31065520, 31069844, 31086087, 31136984, 31142735, 31186238, 31190447, 31194980, 31195064, 31239700, 31278131, 31319796, 31319849, 31394122, 31402556, 31440992, 31498866, 31541681, 31570854, 31575545, 31599408, 31623651, 31625123, 31646557, 31733149, 31802937, 31807066, 31827403, 31844057, 9635572, 9671767		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	11819825, 11839663, 12692418, 12969793, 15832407, 17510384, 18282277, 18313840, 18842495		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	20118494, 21147764, 25822088, 27738331, 28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	25157968, 26619011		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18171349, 19101982, 19462446, 20546333, 24798001, 28035485, 28854942, 30121369		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	21047994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	30268125	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	30326962	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	28854942		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	30268125, 32317078	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34235224, 35338348	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	19679878		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	10467420, 21047994		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	10698519, 11238187, 11280770, 11809809, 16314847, 16465377, 16465411, 17283120, 19118010, 21324921, 21822615, 22110662, 22213192, 23822752, 24089139, 24633918, 25270420, 25537506, 25792709, 27177928, 27734029, 27881216, 27984126, 28671671, 29024409, 29525529, 30566242, 30713111, 30901310, 31836555, 9671767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	12466281, 16124056, 23822752, 26571119, 28284560, 32148378, 38285876	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	LHGDN	17962810, 19061838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	27881216	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	18219106, 25413006, 31309540, 32457348, 33300106	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29355514		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	27586205		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	12386812, 12754743, 22606268, 23246962, 25164010, 27007150, 29050202, 29393404, 29449540, 30431139		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	12937339, 18048388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	18372914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	19154401, 19609729, 22276175, 22806826, 24454854, 24498333, 24933634, 26416062, 26823848, 27014877, 27642589, 28259951, 28849055, 28883453, 29141249, 29562493, 29565490, 29660200, 30070325, 30078010, 30532069, 30547768, 30599132, 30810286, 30913872, 30918250, 30944277, 31006666, 31081094, 31158229, 31659154, 31766223, 31894338, 32051824, 32521874, 32548260, 32815451, 33099905, 33231090, 33264103, 33407425, 33628101, 33637678, 34096448, 34252536, 35475399, 35744950, 35979255, 36047666, 36193788, 36398031, 36519636, 37092550, 37266589, 37328769, 37920971, 37925939, 38014454, 38303608, 40650414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27548498, 27576056		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37108249	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27548498, 27576056		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16143398, 27548498, 27576056		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	24465439, 26546590		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	24465439	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	31298388	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27548498, 27576056		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	15972957, 20042714		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	10070329, 24197976, 9484818	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	12439911, 12888830, 15316903, 15712207, 17278192, 18461655, 20491588, 20529814, 21574102, 22528942, 23238650, 23661344, 23767917, 24187464, 24415879, 24507671, 25120767, 25209444, 25343173, 25396757, 25973035, 26408312, 27843945, 29901149, 33478201, 33761659, 33817713, 34157052, 36636641, 36820560, 37032609	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	14645698	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	30947262	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11927008, 14745729, 15195109, 29511289, 30029779, 30509083, 30885941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	15195109, 31210316, 32597418	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Lymphocytic, Intermediate	Lymphoma, Lymphocytic, Intermediate	CTD_human_DG	18787224		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11927008		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	11927008		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	15195109, 17107393, 29511289		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	22080605, 24196786, 26960970, 28548127		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	26246285, 35714567	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	10189891, 12204056		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	20300972, 26708597, 27613837, 27783990, 28160566		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	17764107, 23730900, 25524937, 26713771, 27765354, 29771197		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18787224		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	CTD_human_DG	18787224		★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	30849635		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	11464291, 12970740, 24041698, 24491449, 29659015		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	22784439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	16140927, 18647815, 20959480, 23409032, 25823656, 26312764		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	19582367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10568816, 10741284, 10874025, 11179484, 11437404, 11533658, 11712082, 12398896, 12439718, 12631383, 12750294, 14666652, 14712077, 14990565, 15082903, 15492240, 15753985, 15994955, 16273236, 17050667, 17143483, 17178895, 17314492, 17420453, 17587808, 18283316, 18339854, 18490442, 18701415, 18708403, 19145675, 19301122, 19576865, 19638211, 20056651, 20126544, 20215423, 20395444, 20501844, 20507565, 20545611, 20606007, 20830236, 21067528, 21076461, 21113658, 21317931, 21573501, 22026417, 22270359, 22484497, 22649545, 22705350, 22805760, 23302090, 23306204, 23417837, 23516639, 23576562, 23767917, 24085799, 24260469, 24401947, 24607787, 24897117, 24990246, 25056574, 25085904, 25209439, 25257174, 25353218, 25361981, 25499975, 25663530, 25755089, 26164002, 26285011, 26398662, 26460550, 26497855, 26514524, 26639233, 26676609, 26721716, 26750754, 26758430, 26805761, 26876203, 26896736, 26916619, 26992223, 27197202, 27208794, 27345400, 27507057, 27780144, 27926520, 27959422, 27983530, 28035400, 28096336, 28103884, 28114432, 28191619, 28279068, 28296189, 28408852, 28427223, 28464819, 28474758, 28522609, 28533512, 28693189, 28798698, 28819413, 28914191, 28965856, 28975625, 29162853, 29179185, 29286921, 29316252, 29356693, 29367600, 29383144, 29391809, 29435071, 29444668, 29469819, 29471794, 29879416, 30032645, 30137666, 30186463, 30196303, 30201862, 30228287, 30300682, 30320375, 30344009, 30445978, 30599914, 30633353, 30658681, 30697969, 30714168, 30738779, 30792381, 30809286, 30854682, 30880222, 30911062, 30941948, 31095937, 31124219, 31171012, 31175550, 31206033, 31526439, 31545288, 31545416, 31564892, 31571495, 31604679, 31744448, 31773701, 7478552		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	12165863, 25330770		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of cecum	Cecum cancer	CTD_human_DG	14688030		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10411147, 10671680, 12439748, 15492994, 19329935, 19737954, 23135473, 23295859, 23760948, 24966918, 25686835, 28424422, 28622040, 29348629, 30093563, 30715091, 30850842, 31032220, 31632077, 8639463		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10096251, 12498294, 14752418, 16114033, 17309796, 17631645, 20236666, 20868558, 23359356, 24022664, 27414086, 28325828, 30483745, 30880778, 31733028		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	23319036, 25676706, 26715268, 30807303, 31811866		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	14533014, 21447180, 22249261, 23582741, 25333257, 28625518		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	10690524, 18765951, 20459685, 22180573, 26142394, 30528740		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	30046398		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	10467420, 21047994		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11238187, 11570580, 12830000, 14767485, 15965925, 16012954, 17030191, 17157329, 17283120, 17962810, 18592156, 19101982, 19118010, 21992464, 22811581, 23483729, 23555187, 23769673, 24089139, 24317053, 24431896, 24837480, 24940873, 25661872, 25792709, 26431491, 26715116, 26811628, 26942873, 26956539, 27462920, 27618837, 27851986, 27981621, 28583374, 28671046, 28671671, 28807594, 29101368, 29383099, 29449541, 29555987, 29578061, 30359743, 30418535, 30762425, 30953666, 30981110, 31163223, 31322782, 31690625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11170292, 11464291, 16103059, 17024233, 17660948, 18091381, 18308762, 18372914, 18553167, 18692936, 20068157, 20572159, 21292787, 21933103, 22081448, 22407457, 22528942, 22912335, 23030416, 23086683, 23880650, 23983127, 24241961, 24448687, 24454854, 24498333, 24933634, 25036006, 25164010, 25396757, 25544258, 26122848, 27836540, 28076327, 28198062, 28368399, 28849055, 28883453, 28968956, 28972040, 29050202, 29072692, 29137254, 29141249, 29393404, 29496538, 29562493, 29565490, 29626521, 29739711, 29974605, 30097569, 30214594, 30396950, 30504718, 30970294, 31006666, 31074646, 31158229, 31562867, 31659154, 31741753, 31796785, 9864406		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	18372914		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12963979, 15791567, 20302655, 21781452, 23840677		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	20215420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10391090, 10417756, 10433945, 10739697, 11182035, 11329142, 11385321, 12727850, 15911235, 19957335, 21738044, 22232518, 24078348, 24244294, 24954508, 25211326, 26341496, 26455321, 27588493, 27835587, 28090074, 28440436, 28650464, 29486472, 30103006, 30537410, 30572097, 31193124, 31653698, 31685298, 9537226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG	10391090		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	22000491		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12219004, 12460462, 12679314, 19249679, 20454507, 21268134, 21617869, 22213040, 24023356, 24402132, 24769073, 24926961, 25869100, 26070964, 26113407, 26395974, 26398277, 26526617, 26908451, 27485116, 27919787, 27983920, 28121357, 29045811, 29050300, 29059162, 29274277, 29387014, 29856990, 30360026, 30368889, 30831090, 30866999, 30958531, 31118816, 31404031, 31412666, 31423172, 31769353, 31851779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	18223216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10580987, 10987273, 11102958, 11921277, 12738737, 15361837, 15375610, 15492994, 15520198, 15753999, 15958572, 16023783, 16428447, 16457155, 16741972, 16956712, 17234760, 17476687, 17904788, 17929268, 17979146, 18218096, 18514389, 18819930, 18852124, 19277043, 19777185, 20101234, 20454608, 21607288, 21649463, 21880738, 21885566, 22298898, 22493441, 22858929, 23070813, 23188675, 23300485, 23349811, 23752183, 24019458, 24088787, 24403228, 24607787, 24727894, 24823909, 25130271, 25712462, 25719802, 25893287, 25909225, 25925381, 26198640, 26497355, 26509262, 27196755, 27599661, 28035382, 28189566, 28209613, 28220803, 28602980, 28614631, 28697756, 28731148, 28741117, 28895566, 29108267, 29257301, 29505302, 29536528, 29629558, 29658569, 29691294, 29755115, 29849951, 30125550, 30241050, 30352998, 30532005, 30774387, 30779066, 30809864, 30819007, 30904606, 30987323, 31027362, 31042325, 31387608, 31649488, 31719098, 9635571		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17363566, 29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21584489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10485468, 11125285, 11241321, 11445844, 11494032, 11604997, 11747475, 11756228, 11788899, 12067995, 12721245, 12966349, 14517582, 15135482, 15138556, 15245777, 15467739, 15609344, 15895459, 15896469, 16132582, 16311123, 16651426, 16740781, 17149756, 17163846, 17295679, 17297461, 17393422, 17400182, 18330950, 19223545, 19475529, 19958059, 21750908, 21894439, 22246241, 22407433, 22848100, 22918686, 22970250, 23055201, 23135750, 23196062, 23708208, 23749771, 23843035, 24077348, 24337893, 24510342, 24535143, 24676361, 24788044, 24809965, 25861021, 26033320, 26386561, 26417932, 26530498, 26762410, 26872378, 27082441, 27121204, 27146881, 27694893, 28260026, 28268166, 28401003, 28454326, 28481365, 28534934, 28550303, 28671020, 28739741, 28994231, 29030742, 29090670, 29273006, 29348665, 29374064, 29374493, 29393470, 29422112, 29559846, 29565486, 29620286, 29960070, 30008840, 30063079, 30127921, 30134915, 30165890, 30171989, 30178386, 30419872, 30483755, 30579603, 30632714, 30635820, 30792218, 30858758, 30904482, 30980943, 31138169, 31413736, 31452758, 31632151, 31649207, 31692499, 31747856, 31816819		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11238046, 16263821, 21940753, 23261982, 28352188, 28864377, 28968956, 29023429, 31288899, 31669575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	20508033, 21352379, 25001480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11585741, 12394763, 20818428, 22049531, 22331730, 23447569, 24329492, 26069102, 26173102, 26369384, 27419371, 27472396, 28521777, 28705118, 28796367, 29501702, 29541396, 29549123, 30015971, 30132983, 30229818, 30329043, 30415269, 30471109, 30527358, 30588263, 30953817, 31318608, 31431517		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10027390, 10189891, 10192393, 10220399, 10462524, 10528152, 10551330, 10562815, 10690524, 10754205, 11062151, 11103785, 11161379, 11241321, 11398198, 11409872, 11464291, 11520139, 11528255, 11557787, 11666046, 11696422, 11752446, 11780196, 11893906, 11920740, 11950953, 12007186, 12023580, 12071524, 12439747, 12469220, 12632098, 12800191, 12841864, 12912937, 12912959, 12949799, 12966349, 14633328, 14645696, 14654529, 14712077, 14973118, 14991150, 15004225, 15044508, 15133491, 15138556, 15195109, 15476853, 15523694, 15540161, 15592430, 15606674, 15609344, 15731909, 15788729, 15809669, 15911235, 15923435, 16023783, 16039586, 16054165, 16054689, 16163548, 16258095, 16377174, 16465377, 16568448, 16648570, 16685408, 16798748, 16849322, 16953230, 17020613, 17143299, 17234755, 17287208, 17445872, 17679465, 17724465, 17897439, 18199531, 18282277, 18391748, 18577996, 18621708, 18708403, 18819930, 19270644, 19351774, 19433088, 19576519, 19622417, 19639172, 19671687, 19703993, 19729298, 19808961, 19878868, 19941816, 19966865, 20065031, 20089328, 20101234, 20126544, 20332316, 20421722, 20442281, 20473943, 20711340, 20736306, 20818428, 20828404, 20870744, 20969832, 20971814, 21067528, 21126356, 21168197, 21273585, 21303971, 21339756, 21393571, 21448903, 21517265, 21521850, 21704588, 21704622, 21729876, 21799775, 21880738, 22112481, 22154485, 22158040, 22276605, 22331730, 22351518, 22389395, 22407433, 22493441, 22511755, 22609776, 22723415, 22753465, 22773819, 22820499, 22823957, 22854964, 22912335, 22918686, 22935204, 22999562, 23045279, 23055201, 23092337, 23135473, 23188675, 23245941, 23273980, 23319036, 23337059, 23359139, 23371049, 23543667, 23580348, 23583669, 23592547, 23649311, 23660959, 23677639, 23736261, 23822752, 23840677, 23941831, 24008318, 24020724, 24022664, 24132290, 24260469, 24268141, 24333218, 24401947, 24402132, 24501326, 24504219, 24574339, 24590867, 24610469, 24643625, 24712725, 24810017, 24823909, 24832083, 24954508, 24999478, 25001176, 25036006, 25217103, 25324171, 25343173, 25384171, 25396757, 25499541, 25499975, 25746001, 25788321, 25799881, 25844602, 25974148, 26005854, 26047573, 26053275, 26058972, 26081897, 26110841, 26122848, 26123544, 26212035, 26252773, 26455321, 26498690, 26509276, 26544896, 26565021, 26603103, 26707164, 26708597, 26716413, 26719531, 26750754, 26771139, 26849897, 26876203, 26910375, 26915315, 26942873, 26956539, 26960970, 27045798, 27089389, 27104313, 27120392, 27196755, 27196759, 27203386, 27239797, 27292269, 27333045, 27403031, 27432651, 27472396, 27612668, 27679509, 27694002, 27758879, 27775073, 27789195, 27895148, 27909720, 27960558, 27997180, 28096336, 28107095, 28218467, 28328801, 28339085, 28364002, 28418856, 28430641, 28442534, 28467774, 28467793, 28476164, 28553956, 28611040, 28611108, 28648520, 28656063, 28681073, 28684528, 28694244, 28739720, 28751540, 28781663, 28822229, 28844090, 28844868, 28889723, 28927523, 28963373, 28980721, 28981096, 29035389, 29069729, 29071717, 29083417, 29115417, 29154817, 29169144, 29173982, 29185453, 29207657, 29211363, 29233839, 29282298, 29287960, 29330435, 29334999, 29374067, 29383099, 29423068, 29428231, 29435071, 29455637, 29462785, 29471794, 29483096, 29490303, 29541396, 29549930, 29552214, 29588395, 29596326, 29610281, 29692251, 29700003, 29717114, 29729328, 29755115, 29764469, 29776636, 29786110, 29805590, 29867130, 29879416, 29923144, 29943808, 29966337, 29974851, 29991691, 30009824, 30018042, 30056837, 30075764, 30091683, 30154153, 30188700, 30189871, 30257989, 30275052, 30277583, 30360026, 30365932, 30394013, 30405829, 30417576, 30428062, 30431078, 30451972, 30459318, 30477461, 30499396, 30540162, 30541713, 30599139, 30691229, 30691241, 30699286, 30714168, 30762425, 30770775, 30805970, 30809286, 30823613, 30844387, 30867651, 30899591, 30905819, 30906632, 30953666, 30964097, 30968157, 31067445, 31074646, 31094091, 31118796, 31171012, 31180539, 31248373, 31327462, 31331376, 31341586, 31360304, 31390565, 31419437, 31427737, 31434880, 31511432, 31587178, 31632151, 31698521, 31769242, 31775307, 31810923, 31829231, 31844057, 7862112, 8521721, 9377556, 9566701		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	23535903, 27448963, 30112810, 30382607		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	15814622, 17949785		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10780674, 11893906, 12883680, 19716018, 19857041, 26427870, 27065319, 27081037, 27092879, 27513465, 28386346, 28627610, 28880275, 28902356, 29048651, 29130111, 29181101, 29959029, 29970906, 30466627, 30484490, 30547809, 30915737, 30939162, 31298313, 31327462, 31410143, 31666350, 31682716, 9865919		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10201372, 10204808, 10507776, 10700176, 10837025, 10874025, 11227951, 11389074, 11398198, 11522655, 11592095, 11676549, 11752446, 11781281, 11896466, 11986304, 12147710, 12183361, 12185590, 12370429, 12414619, 12447697, 12460462, 12460931, 12517779, 12555076, 12810642, 12912937, 12958170, 14500351, 14610217, 14612521, 14691307, 15004225, 15017626, 15051498, 15558022, 15592505, 15665104, 15837931, 16273202, 16299383, 16540637, 16685408, 16735606, 16926625, 17030184, 17101323, 17189293, 17241872, 17395983, 17407603, 17449905, 17635998, 17699774, 17909039, 17909068, 18161931, 18165946, 18260092, 18387968, 18794900, 18852287, 18987336, 19010825, 19035286, 19075513, 19106159, 19190323, 19244345, 19353243, 19415698, 19460168, 19487278, 19520846, 19749792, 19790197, 19808961, 20043299, 20470206, 20501807, 20717765, 20736306, 20890287, 20950152, 20980803, 21403839, 21609933, 21795396, 21822311, 21858154, 22104393, 22168384, 22170051, 22459450, 22460269, 22470507, 22640743, 22739727, 22961697, 23029025, 23243217, 23339186, 23349811, 23449499, 23583560, 23624922, 23671587, 23817222, 23840886, 24104353, 24129564, 24268141, 24289544, 24390805, 24481461, 24496450, 24574339, 24651522, 24681249, 24722208, 24930890, 25023701, 25073953, 25109331, 25149539, 25229241, 25337216, 25775405, 25960214, 25994220, 26189775, 26191323, 26266404, 26267535, 26477307, 26804172, 27089389, 27120392, 27196752, 27641329, 28039460, 28109136, 28145888, 28218467, 28408316, 28467774, 28578586, 28657468, 28916833, 28947978, 28970068, 29033371, 29044515, 29058812, 29108267, 29167314, 29225578, 29255096, 29337987, 29364476, 29455637, 29457276, 29541216, 29587241, 29606502, 29656061, 29730655, 29749530, 29794245, 29808797, 29923144, 29948330, 30082743, 30185549, 30274939, 30560565, 30588252, 30618098, 30650643, 30944457, 31105882, 31111874, 31121307, 31262892, 31351496, 31471104, 31511060, 31698657, 31810923, 31812723, 9065402, 9377556, 9671767		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	12628520, 12800193, 14507667, 15459021, 17404573, 18283038, 21081470, 22323126, 9515794		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	12165863, 25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10741284, 12398896, 14739782, 17510243, 17897439, 18339854, 18490442, 20693983, 21665913, 22270359, 23592333, 23767917, 24171719, 25039920, 26036628, 30238177		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	12165863, 25330770		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15082903, 17050667, 17914096, 18456656, 18490442, 18611862		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	12165863, 25330770		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	34106411	Associate	★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	18787224, 22485149, 23760751, 27430213, 28901456		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	37894814	Associate	★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	10562815, 11876551, 20532534, 20544848, 25602793, 30910249		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	26208847		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	22199277, 26208847		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10666372, 10759189, 11585731, 12182422, 12209999, 12555076, 15077159, 15176713, 15198123, 15488029, 16258095, 16988585, 17172831, 17373666, 17455096, 18688572, 19197950, 19293793, 20479417, 20921458, 21060032, 21150899, 21295689, 21358093, 21850537, 22027544, 22722829, 22820256, 22832583, 23094051, 23525311, 24791927, 24871706, 24894640, 25229241, 27050100, 28798218, 29141249, 29582169, 30374857, 31104222, 31343993, 31504825, 9500446		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	UNIPROT_DG	10666372, 12027456		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	Pubtator	10666372, 15446583, 15508347, 19293793, 20921458, 21358093, 22820256, 22832583, 23094051, 23135025, 23525311, 24791927, 25054898, 25229241, 26290144, 28231263, 28798218, 29141249, 29753700, 30252101, 30523493, 31504825, 33978203, 35320876, 35831448, 36096860, 36181537, 38384024, 39963032	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	LHGDN	12209999		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	CLINVAR_DG	25157968, 26619011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma	Medulloblastoma	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	28935960, 30679790		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10027390, 10201372, 10549354, 10811985, 11245482, 11351304, 11594745, 11930117, 11950921, 12124804, 12183361, 12235125, 15024079, 15133491, 15300212, 15378016, 16116595, 18006687, 18384130, 21496114, 21584489, 21649464, 21858114, 21963849, 22172720, 22234612, 22536370, 22753409, 22815287, 22895053, 23489693, 25343173, 25433395, 25915038, 27061029, 27175588, 27351373, 27428425, 28161440, 28191677, 28412591, 28605165, 28887323, 29664013, 29940608, 30132512, 30565685, 30679790, 30756182, 31103822, 31129246, 31134297, 31320640, 31338875, 31385607, 8642260, 9065403, 9377556, 9537226, 9591632, 9671767		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CLINVAR_DG	10027390, 11351304, 11930117, 11950921, 12124804, 15133491, 19234609, 25157968, 9065403		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10027390, 10621837, 10699468, 14633602, 15987741, 16116595, 16371504, 18563180, 21577209, 21829575, 22234612, 22536370, 22685558, 22895053, 23462101, 23869245, 24114839, 24733413, 25339196, 25343173, 25839957, 25980496, 27175588, 27351373, 27488834, 27531891, 28067893, 28273108, 28829835, 29664013, 30484495, 30634982, 30635339, 30835257, 30846484, 31320640, 31703593, 31980996, 32269030, 32404956, 32933177, 33185885, 33204327, 34167064, 34769455, 34819356, 34986841, 35282769, 35461746, 35552752, 35703357, 38169586, 39766280, 8642260	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	11930117, 12124804, 12235125, 15987741, 16239965, 16371504, 17668445, 17992121, 18384130, 18563180, 19144919		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31338875	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35563300	Inhibit	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29664013, 32483240, 33204327	Associate	★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	15696778		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	16879395, 19703993, 20809251, 27292269, 28884048, 29297710		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	19703993, 20574529, 25864108, 27292269, 30849635	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	25383518, 28012947, 29490303, 29688389, 29737454		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	Mental retardation	UNIPROT_DG	23033978, 25326669, 28514307		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	Mental retardation	ORPHANET_DG	24614104		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	Mental retardation	CLINVAR_DG	24668549, 2614104, 27915094		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	Mental retardation	GENOMICS_ENGLAND_DG	26968164, 27915094		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	17214850		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	11070089, 11437403, 11464291, 12907630, 12970740, 15150100, 15451431, 15705870, 20596629, 21983934, 28090191, 29403559		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	11070089, 11437403	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	22135721, 25364818	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21521850, 24633315, 28963928		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	21521850, 23442321, 32811441	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26797284, 40243895	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28696417		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	11950921, 21858114, 28412591, 28421416, 30565685, 30835257, 31443765, 31703593		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	22298898		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	26968164, 30929091		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	26968164, 27915094, 30929091, 31309540, 38364504	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	34741399	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcystic stromal tumor	Microcystic Stromal Tumor	BEFREE	21881488, 25675179, 25913412, 26200099, 28551672, 30325056		★☆☆☆☆ Found in Text Mining only
Microcystic stromal tumor	Microcystic Stromal Tumor	Orphanet			★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	17873895		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	35246174	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	35546551	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	28684528		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24303084	Associate	★☆☆☆☆ Found in Text Mining only
Mitral valve dysplasia	Mitral Valve Dysplasia	BEFREE	25814644		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	19587378, 19652203		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	17511616, 29737454		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	23626717, 32092099	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	15791567		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	17764575, 20302655, 21781452, 23840677, 23999978, 24261884, 34564680, 36231010, 37203400	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23936352	Inhibit	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	11719191, 15713948, 15866163, 15866164, 18334222, 1999432, 21903672, 22110128, 22495309, 22682243, 23033978, 23499309, 24431282, 24614104, 24668549, 25326669, 25533962, 27915094, 28575650, 8227220, 8582267, 9060476		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	23518061	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	29983864		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	12694354, 17315172		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	LHGDN	12694354		★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11719191, 15713948, 15866163, 15866164, 18334222, 1999432, 21903672, 22110128, 22495309, 22682243, 23033978, 23499309, 24431282, 24614104, 24668549, 25326669, 25533962, 27915094, 28575650, 8227220, 8582267, 9060476		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	22975441		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	11756777, 29449689, 30721134		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15067127, 18575761, 19018094, 19270264, 20846389, 23155232, 25046247, 28099937, 28467797, 29212806, 31322175, 31506802, 32347936, 33469678, 34216957, 34584036, 37239457, 40650009	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	15850991, 17452641, 18485479, 19018094, 19351774, 19652203, 22363428, 22609776, 24879546, 25046247, 26005854, 26081897, 26521987, 26763740, 28275987, 31506802		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26592242, 28137846		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35085379	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	29329560	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Oculopharyngeal	Oculopharyngeal Muscular Dystrophy	BEFREE	24091664		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	15788729, 18199528		★☆☆☆☆ Found in Text Mining only
Mycoplasma-Induced Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18217891, 19781444, 22706399, 27737891, 28348148, 28684528, 29805763		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	18217891, 22706399, 26521017, 36291656	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26078714	Inhibit	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	27381374		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	14563124, 16688229, 17318191, 19237556, 20210255, 21158719, 21596859, 22232214, 22262776, 22773819, 22823957, 23233089, 23299311, 23519466, 24101380, 24339928, 25389112, 26147002, 27492973, 27643437, 27769062, 27852702, 27908728, 28321124, 28468589, 28840581, 28881589, 29945498, 30257344, 30301525		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15257703, 30582392		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	22135721	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	26200099, 27015438		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	27391264	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27579618, 29356094, 30964183, 31298401		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19602881, 29190815, 31419437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	29394407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	40620566	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	24755605		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	35586671	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	32155193	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	33077317	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27577998		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	28059551	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15297395, 15361301, 17458518, 19931509, 21240516, 21336584, 23461856, 23573286, 23649311, 25297925, 25427424, 26276746, 26849897, 26943030, 27769064, 27891591, 28157708, 28454316, 28656063, 29088815, 29463902, 29552214, 29764469, 29917194, 30396174, 30867651, 30896882, 30918012, 31025872, 31305293, 31594754, 31754475		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	19448422, 21240516, 21336584, 23573286, 24073846, 25297925, 26497204, 27769064, 29917194, 30075814, 30396174, 30779075, 30896882, 31841193, 32138771, 32271425, 32862607, 33068388, 33317407, 34485531, 35907914, 37215987	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	33724059	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	29131245	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	31582728		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	19786028, 31344710, 31582728		★☆☆☆☆ Found in Text Mining only
Neoplasm of the anterior pituitary	Brain Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10027390, 10072352, 10076565, 10096251, 10197610, 10213482, 10367940, 10391090, 10398436, 10416591, 10433945, 10435629, 10463574, 10487827, 10489374, 10490837, 10493496, 10502323, 10528152, 10545724, 10595907, 10597266, 10690524, 10698519, 10700176, 10709091, 10741284, 10749138, 10782927, 10834386, 10837025, 10874025, 10910037, 10911903, 10931041, 10934159, 10953028, 11012986, 11048799, 11050151, 11070089, 11103785, 11158322, 11169521, 11193470, 11213832, 11238046, 11238055, 11238187, 11241321, 11309340, 11329142, 11375957, 11381089, 11385321, 11396184, 11437403, 11437409, 11454429, 11464291, 11472567, 11477549, 11478263, 11522655, 11526241, 11579678, 11592840, 11676549, 11689433, 11696422, 11719457, 11727261, 11731417, 11737884, 11756228, 11756777, 11780196, 11809809, 11857309, 11876551, 11880727, 11891531, 11893906, 11894114, 11920497, 11920740, 11939410, 11943708, 11950921, 11956815, 12023580, 12027456, 12032865, 12045208, 12057932, 12065775, 12067995, 12086873, 12095925, 12117880, 12182422, 12185585, 12204056, 12209953, 12209999, 12210511, 12235125, 12239584, 12370429, 12379157, 12417602, 12439747, 12533679, 12533831, 12558744, 12571275, 12606944, 12618884, 12631383, 12632098, 12648588, 12679314, 12694354, 12708483, 12820426, 12907143, 12907630, 12912959, 12966349, 12970740, 14583455, 14601048, 14614047, 14633602, 14639622, 14647445, 14654529, 14660579, 14681318, 14745729, 14970870, 14994125, 15014011, 15014986, 15107603, 15135482, 15150123, 15176713, 15195113, 15198123, 15223963, 15233950, 15245581, 15256777, 15288479, 15292388, 15300212, 15300804, 15305374, 15334661, 15361208, 15361301, 15361837, 15380172, 15451431, 15476271, 15480989, 15492799, 15492994, 15513360, 15540161, 15579438, 15609344, 15641992, 15647192, 15668893, 15735746, 15737694, 15753375, 15761464, 15788657, 15791567, 15814622, 15891929, 15958610, 15994955, 16021566, 16042571, 16075282, 16098625, 16108035, 16121349, 16140927, 16158183, 16181381, 16342409, 16364759, 16378715, 16434961, 16452189, 16465411, 16491118, 16496320, 16507986, 16565724, 16575872, 16632476, 16705313, 16731593, 16740029, 16760136, 16830381, 16865250, 16867867, 16879395, 16901974, 16906516, 16937357, 16967453, 17028196, 17030191, 17047023, 17047077, 17096730, 17101323, 17135276, 17160019, 17163162, 17178895, 17183061, 17183069, 17203186, 17219201, 17257127, 17258789, 17309796, 17315172, 17334348, 17350138, 17361206, 17407603, 17452641, 17454753, 17510243, 17510384, 17526942, 17534844, 17535860, 17551084, 17577324, 17592150, 17615082, 17631641, 17632456, 17657734, 17671179, 17693578, 17710160, 17873895, 17929268, 17947472, 17968317, 17983802, 17997499, 18044981, 18078366, 18084253, 18162763, 18172252, 18190825, 18192886, 18224684, 18241037, 18246043, 18276111, 18281531, 18294932, 18311776, 18313787, 18313840, 18339840, 18358501, 18376386, 18387968, 18419788, 18433021, 18474248, 18484682, 18537155, 18540944, 18541010, 18544621, 18580095, 18593907, 18618575, 18627596, 18647815, 18688572, 18725219, 18769486, 18807072, 18819930, 18949017, 18987336, 18992247, 18992635, 19024596, 19035286, 19101982, 19145675, 19222307, 19244345, 19284991, 19325125, 19351774, 19384065, 19498322, 19530245, 19542870, 19569179, 19584150, 19597346, 19622417, 19633924, 19639167, 19674849, 19720778, 19729298, 19755524, 19789364, 19863445, 20010873, 20028760, 20129645, 20182836, 20197769, 20208143, 20232483, 20300972, 20347502, 20363046, 20418909, 20474081, 20532534, 20538055, 20541034, 20544848, 20545611, 20677343, 20699366, 20717765, 20809251, 20830236, 20841474, 20844082, 20856206, 20872274, 20878954, 20888802, 20933443, 20959480, 20969832, 20971814, 20978149, 21060032, 21078161, 21084400, 21088256, 21123622, 21159632, 21170265, 21205878, 21237236, 21248786, 21304988, 21323741, 21468052, 21468523, 21472018, 21484796, 21531001, 21565795, 21569306, 21602666, 21609933, 21617850, 21617877, 21636786, 21704588, 21720709, 21769465, 21799775, 21849527, 21858114, 21858154, 21860425, 21881488, 21894439, 21932035, 21945955, 21949247, 21983638, 21992464, 21994129, 22000491, 22080605, 22082586, 22086512, 22104393, 22115830, 22120905, 22147647, 22152854, 22158040, 22168384, 22172720, 22180573, 22211293, 22213040, 22232518, 22234612, 22240482, 22363428, 22369755, 22383975, 22407433, 22490519, 22509309, 22523587, 22528942, 22576020, 22652173, 22699938, 22721621, 22749188, 22797058, 22851508, 22902411, 22955108, 23011390, 23027341, 23029025, 23033009, 23034650, 23045279, 23055545, 23068095, 23084586, 23084749, 23117548, 23153582, 23155044, 23174937, 23192356, 23208497, 23227266, 23246962, 23269799, 23276799, 23302090, 23319036, 23319157, 23337059, 23381389, 23397229, 23409032, 23417837, 23428420, 23461856, 23535903, 23591193, 23592333, 23630011, 23640056, 23669411, 23691015, 23714252, 23717499, 23736260, 23749671, 23769888, 23783026, 23788652, 23792637, 23811286, 23812285, 23814483, 23840677, 23855266, 23941831, 23960186, 24000138, 24006069, 24008668, 24041653, 24072181, 24080207, 24082114, 24089139, 24113220, 24120736, 24158497, 24166495, 24190141, 24258344, 24260469, 24268141, 24290754, 24314188, 24317053, 24327474, 24347427, 24356780, 24379239, 24403228, 24440673, 24459012, 24503442, 24564183, 24633194, 24639398, 24681249, 24727000, 24747642, 24755523, 24787708, 24798046, 24832083, 24848709, 24853424, 24871706, 24894640, 24923353, 24946283, 24954508, 24997156, 25023548, 25023701, 25025452, 25072259, 25074465, 25076852, 25131582, 25135868, 25186079, 25193857, 25207834, 25211326, 25214561, 25217103, 25229241, 25270420, 25297617, 25301735, 25337216, 25343173, 25345514, 25347742, 25355426, 25403422, 25431235, 25433395, 25482924, 25490274, 25553423, 25573529, 25589272, 25602793, 25614489, 25658419, 25660336, 25661872, 25738398, 25750087, 25764520, 25799881, 25823656, 25827435, 25861021, 25869100, 25941936, 25956904, 25971209, 25989272, 25994220, 26005854, 26098881, 26113407, 26164002, 26171757, 26191323, 26200099, 26224873, 26259251, 26286987, 26341700, 26416247, 26439949, 26446838, 26452219, 26472020, 26474277, 26490308, 26512920, 26517516, 26526388, 26572152, 26645457, 26654598, 26662307, 26663015, 26719531, 26721716, 26763580, 26778753, 26811225, 26811628, 26820701, 26876203, 26907785, 26915315, 26936393, 26968103, 26990689, 27007150, 27033953, 27084040, 27092879, 27119499, 27175588, 27208626, 27213811, 27221776, 27239797, 27259009, 27259866, 27272409, 27276713, 27281609, 27333864, 27378242, 27389594, 27390343, 27468715, 27529071, 27565718, 27566107, 27589897, 27679509, 27682597, 27780915, 27793695, 27801954, 27825542, 27840971, 27852897, 27891591, 27898339, 27902969, 27903126, 27910913, 28039458, 28086833, 28088268, 28095038, 28096336, 28105693, 28109136, 28121357, 28126478, 28130546, 28157212, 28160566, 28165564, 28174789, 28183999, 28188683, 28208230, 28216017, 28281553, 28284729, 28326956, 28350521, 28368424, 28382841, 28412591, 28416735, 28424422, 28451756, 28463908, 28476031, 28494348, 28494797, 28495590, 28498284, 28500231, 28522609, 28536281, 28544044, 28552992, 28561907, 28578348, 28597750, 28611040, 28611108, 28631187, 28658279, 28661210, 28671671, 28677737, 28681073, 28684164, 28695795, 28707994, 28708138, 28709442, 28717243, 28729225, 28751540, 28798257, 28801349, 28807594, 28808993, 28851352, 28856682, 28873352, 28884048, 28889723, 28915721, 28935960, 28938607, 28963373, 28984520, 29024409, 29025272, 29029464, 29033371, 29045831, 29065410, 29079964, 29113300, 29115417, 29141249, 29146051, 29152120, 29152756, 29156521, 29156780, 29180744, 29181101, 29211363, 29222110, 29229887, 29238040, 29243047, 29250652, 29272888, 29274277, 29279096, 29282298, 29283884, 29286921, 29297710, 29303508, 29330435, 29343267, 29344218, 29353209, 29353494, 29367600, 29383099, 29391154, 29399110, 29416916, 29428231, 29435071, 29441907, 29467869, 29467897, 29471794, 29496310, 29497056, 29509940, 29525529, 29541220, 29542868, 29546640, 29575443, 29577164, 29610281, 29619850, 29620286, 29660231, 29700003, 29705715, 29725441, 29747501, 29758216, 29765542, 29771197, 29785019, 29785035, 29795437, 29801775, 29848673, 29849951, 29872083, 29879416, 29895194, 29920228, 29923144, 30018042, 30029779, 30043418, 30046398, 30070727, 30075764, 30093563, 30097569, 30109469, 30141993, 30148686, 30172912, 30177831, 30221891, 30249755, 30271168, 30274786, 30275052, 30315137, 30350331, 30365932, 30372871, 30388623, 30401720, 30415269, 30460471, 30472235, 30500980, 30504718, 30513115, 30523493, 30524946, 30528042, 30534810, 30547809, 30570110, 30592181, 30598371, 30613263, 30635339, 30672133, 30676431, 30679179, 30683884, 30685413, 30702464, 30710548, 30714677, 30747223, 30756182, 30794807, 30811747, 30825236, 30828264, 30837277, 30844790, 30910249, 30919136, 30943518, 30963603, 30992462, 30997579, 31015417, 31018940, 31026007, 31043173, 31065705, 31075260, 31118796, 31160382, 31162548, 31171012, 31220430, 31233902, 31261718, 31266530, 31331376, 31338587, 31357721, 31362761, 31367244, 31379206, 31390375, 31404031, 31452758, 31462641, 31511014, 31576098, 31594754, 31653698, 31698657, 31723240, 31730502, 31731194, 31732654, 31733149, 31734232, 31744296, 31747856, 31754475, 31765608, 31796785, 31812723, 7829088, 8616874, 8642260, 8990193, 9024698, 9065402, 9250146, 9274521, 9460988, 9500446, 9515795, 9537226, 9591632, 9601641, 9602705, 9635572, 9708792, 9721853, 9783980		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	29369179, 30277583		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	22520842		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11103785, 12239584, 12474228, 12761165, 14666652, 15540161, 15623481, 15737694, 17172473, 17873895, 18618575, 19530245, 20332316, 21237236, 21248786, 21472018, 21983638, 22081130, 22409817, 22461142, 22749038, 23117548, 24258344, 25310451, 26317783, 28188683, 28315733, 28695795, 29285297, 30155617, 31561534		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	LHGDN	19137020		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	CTD_human_DG	21237236, 28825729		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	20798123		★☆☆☆☆ Found in Text Mining only
Nephronophthisis 1	Nephronophthisis	BEFREE	20798123		★☆☆☆☆ Found in Text Mining only
Nephronophthisis, familial juvenile	Nephronophthisis	BEFREE	20798123		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	29131245	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	29198828, 34941945	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28927523, 29786763, 30635843		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	22247700		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10935448, 17089037, 17724465, 19421142, 19756656, 22298956, 23900566, 24084981, 24314188, 25266063, 27036398, 28003484, 29203817, 29311158, 29321317, 29505958, 30389710, 31220430		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11232642, 17873895, 22298956, 24561119, 25266063, 26340334, 26517508, 27531891, 29203817, 29505958, 30389710, 30868061, 32210188, 34011046	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20515496, 23152614, 30935413, 35487243, 36229517, 38110419	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	17143299		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17289346, 19423950, 21111060, 21305049, 21352912, 27960558		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24614104, 26968164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	11433413, 24700283		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	11329137, 16158183, 23354304, 24700283, 25098665, 25745996, 26434631, 28451756, 29146887, 29449689		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	26904939, 31043173		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	26904939		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	24218515, 28254468		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	16879395, 27345717		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	22247700	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	27345717	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	23434321	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	26521987		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	37358854	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	23382209	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	28935960		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	31025872		★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	31043173		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Aldosterone-producing adenoma	Hyperaldosteronism	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27780309, 28796060, 29749571		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11857309, 12386812, 12414510, 16158183, 16627264, 17167724, 17660948, 17947472, 17949785, 18692936, 20198348, 20474081, 20651379, 22528942, 22721621, 22738915, 23086683, 23579873, 23580348, 23707949, 23807483, 24333218, 24454854, 24895061, 24980784, 25036006, 25168821, 25384171, 25396757, 26212035, 26512718, 26544896, 26548813, 27391422, 27448302, 27458101, 27498289, 27534621, 27596264, 28093328, 28331830, 28377453, 28627514, 28882645, 28956120, 28977927, 28981599, 29029423, 29039479, 29154817, 29414668, 29600803, 29634928, 29725441, 29928432, 30009824, 30015869, 30125547, 30132512, 30177836, 30189871, 30237512, 30334447, 30466106, 30468498, 30536319, 30555744, 30573974, 30679620, 30685413, 30955235, 30970294, 31060551, 31115501, 31228468, 31333800, 31401873, 31452774, 31611970, 31665807, 31775307, 31805518, 31807001		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	18469796, 26721716		★☆☆☆☆ Found in Text Mining only
Norrie disease	Norrie Disease	BEFREE	28707994, 30640974		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18325910, 21521850, 23273980, 23442321, 32811441	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21070846, 23273980, 24633315, 28335081, 28351943, 30065654, 31653704		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26045339	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	35349735	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	17096730, 18486530, 20195877		★☆☆☆☆ Found in Text Mining only
Odontoma	Odontoma	BEFREE	30862786		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26916619		★☆☆☆☆ Found in Text Mining only
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	BEFREE	24782191		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	23474492, 25399296		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	23474492	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral aversion	Oral aversion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	27497264		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	27497264	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	20215420, 24511551		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	20215420, 22507326	Associate	★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	28054306		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17900349, 19810105, 20650323, 22127703, 22513174, 23237804, 23603903, 23748413, 24034904, 24819053, 26071314, 26318657, 26352263, 27999816, 28085114, 28777797, 30280762, 31155960, 32819387, 35484291, 35733354, 37354487, 37794464	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26123554, 29257245	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	31560818, 35137918	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	30912140		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	31560818		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	20042673	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	BEFREE	20042673		★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	23971040, 25498973	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	35676319	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	32757296, 33179111, 34078411	Associate	★☆☆☆☆ Found in Text Mining only
Osteoma	Osteoma	BEFREE	24236197		★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	18288545, 25060766, 30808872	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29124436, 29230039, 29660685, 29710518, 29991466, 30001457, 30107384, 30656849, 31181716, 31301073		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	18296023		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15850991, 24091675, 24465596, 25232676, 26914116, 27023001, 28135705, 28347990, 28696417, 31835596		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	20843343, 25815782, 25957414, 26914116, 29164587, 35758378, 36451445, 36595228, 36736279, 37654220	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	27778261, 29151553, 29229438, 30010081		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10550312, 12402302, 14598886, 15375610, 19307728, 19730790, 20594821, 21517265, 22550000, 23280703, 23291185, 23807684, 24236197, 24403055, 24714960, 24942472, 26026718, 26134785, 26332365, 26628297, 26707073, 27455247, 27780915, 27883247, 27983924, 28246931, 28370561, 28539830, 28681940, 28744146, 28744406, 28770967, 28790389, 28902349, 28918013, 29055954, 29068478, 29108989, 29126913, 29156780, 29290771, 29441981, 29497056, 29523223, 29852168, 29879092, 29901121, 30324663, 30426155, 30489194, 30523602, 30613366, 30755810, 30793158, 30816476, 30909183, 31092328, 31215499, 31452740, 31482846, 31595984		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	12402302, 20926002, 22006429, 23291185, 23971040, 24236197, 24714960, 24942472, 27455247, 28059051, 28081736, 28539830, 28770967, 29055954, 29523223, 29863240, 30260245, 30523602, 30909183, 31072914, 31316000, 31855073, 32016450, 32075661, 32283909, 32323765, 32472335, 32587775, 32695811, 32922188, 33099956, 34172717, 34694765, 35758024, 35783190, 36035366, 36181462, 36280393, 37199076, 37344882, 37405957, 37532779	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35676319	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	11182035, 12727850, 15911235, 9537226		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	31022415		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	14520463, 18500270, 19349352, 31560827, 36318113	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	21860425		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10417756, 10739697, 12800191, 15542433, 15911235, 16021566, 16479254, 19957335, 21738044, 22232518, 24078348, 24244294, 24954508, 25211326, 26341496, 26455321, 27588493, 28090074, 28440436, 28650464, 29486472, 30103006, 30537410, 30572097, 31193124, 31653698, 31685298		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	22000491		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG	25157968		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10391090, 10433945, 11943708, 14520463, 15233950, 15823129, 16461565, 16479254, 19202075, 19820688, 20583256, 21518759, 21799864, 22120905, 22536442, 23250740, 23640056, 23667667, 23765252, 24078348, 24244294, 24253043, 24427347, 24499657, 25297608, 25643607, 25973134, 26175151, 26509912, 26617749, 26658453, 27195958, 27633480, 27835587, 28401704, 29141249, 29256569, 29486472, 29758922, 29949143, 30058681, 30084434, 30165366, 30614794, 30896797, 31004081, 31340883, 31696465, 31748433, 31754130, 31793192, 32139151, 32160916, 32169072, 32186756, 32366234, 32502299, 32538821, 32706063, 33020491, 33069244, 33506897, 33820921, 33921111, 34413913, 34535173, 34689136, 34711431, 34789307, 34790276, 35012617, 35299895, 36123378, 36193300, 36318113, 36657061, 36856760, 36982928, 37303048, 37635486, 37875515, 38010845	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15542433	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian papillary adenocarcinoma	Ovarian papillary adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	12648588		★☆☆☆☆ Found in Text Mining only
OVERLAP CONNECTIVE TISSUE DISEASE	MASS syndrome	BEFREE	29077850		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	17904788, 29341930		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12219004, 12679314, 19249679, 20454507, 21268134, 21617869, 22213040, 24023356, 24402132, 24769073, 24926961, 25869100, 26070964, 26113407, 26395974, 26398277, 26526617, 26908451, 27459115, 27485116, 27919787, 27983920, 28121357, 29045811, 29050300, 29059162, 29274277, 29387014, 29856990, 30360026, 30368889, 30831090, 30866999, 30958531, 31118816, 31404031, 31423172, 31769353, 31851779		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	26253305, 31576098	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19916245, 20814421, 24993031, 27378242, 29596326, 30368889, 31485660		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	10545724, 11756777, 18725219, 21769465, 26148796, 29805647		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12219004		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	18223216		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11943721, 12532469, 15696124, 15810077, 16756720, 17632456, 19608876, 21448903, 21987623, 22041584, 22158988, 22925330, 23359139, 23416978, 24156409, 24248418, 24418574, 24926961, 24977327, 25536063, 25799022, 25971209, 26003048, 26113407, 27481517, 27539223, 28054945, 28349057, 29476053, 30360026, 30745850, 30811747, 31769353, 32149084, 32495868, 32924881, 33148205, 33613108, 33618667, 33662667, 33839271, 34791638, 34821374, 34887984, 35269749, 35359182, 35786664, 35854234, 35929518, 37302809, 37337632, 37685923, 37894684, 37917550, 38267509, 39881334	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17334348	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21196815	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	BEFREE	15814635		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	26572077	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	30140950		★☆☆☆☆ Found in Text Mining only
Pancreatoblastoma	Pancreatoblastoma	BEFREE	12533831		★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	10223192, 10965019		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	12466115, 24413733, 24717047, 27903124, 28500561, 28707994, 28840946, 30074466, 31200374		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	CTD_human_DG	24413733		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11092973, 12107263, 12474227, 15095272, 19107227, 19223551, 19534622, 20470206, 21814573, 23044318, 24848709, 26416247, 27713418, 28456695, 28513866, 28677753, 29498921, 30077672, 30165731, 30190130, 30223266, 30424816, 30534810, 31327063, 31823782		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	11836555, 17284619, 18541010, 22576020, 24035866, 26876532, 27071708		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	19755524, 21078161, 27071708		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	11756777, 17047023, 17284619, 18044981, 18541010, 23764768, 24292603, 27071708, 27760455		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	11836555		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	18541010, 21078161, 23764768, 34054720, 37065733	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23900566, 27012974, 27692691, 27960558, 30477246, 30500462, 30519817, 31160540		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31582965, 34941945, 35269707, 36869069	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	18725219, 24993031, 25324171		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	25604686	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric hepatocellular carcinoma	Hepatocellular Carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31596772		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	24481601		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	23449446, 27512949		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	27351373	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29107899		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29107899		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	28174691, 29363326, 30562743		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	37335673	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	19688824	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritoneal Neoplasms	Peritoneal Neoplasms	CTD_human_DG	22784439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritonitis	Peritonitis	Pubtator	12890743, 33144643	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28575650		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	11103790, 15731909, 20020146, 20428811, 21341271, 30807303		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	35269556	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	20693983		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	30250524		★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	10192393, 11472567, 11703283, 12575848, 14633602, 16378715, 23629955, 28658279, 29369390, 30177831		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	UNIPROT_DG	10192393, 11703283, 12027456		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	ORPHANET_DG	10192393		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	CLINVAR_DG	25157968		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilomatrixoma	Pilomatrixoma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Adenoma	Pituitary adenoma	BEFREE	15980970		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	22086512, 30085028		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	30048990		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	31604907, 35928898, 39290194	Associate	★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	22135721	Associate	★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	28364002		★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	28364002		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	14718571, 35122417	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	19573802, 30265301		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	26142394, 29515026, 30388220		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28709873		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35758378, 39912710	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	LHGDN	18619646		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	30582392		★☆☆☆☆ Found in Text Mining only
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	BEFREE	31233731		★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria cutanea tarda	Pubtator	33000217	Associate	★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	19462446		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28624572		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20188076, 20503246, 27125305		★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	26968164		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	27381374, 30582392		★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	18419788		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	31489648		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30001457		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	29095436	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10580987, 10687853, 10811985, 10987273, 11102958, 15361837, 15375610, 15492994, 15520198, 15753999, 15958572, 16023783, 16428447, 16457155, 16741972, 16956712, 17234760, 17904788, 17929268, 17979146, 18218096, 18514389, 18852124, 19277043, 19777185, 20101234, 20454608, 21607288, 21649463, 21880738, 21885566, 22298898, 22493441, 22858929, 23070813, 23188675, 23300485, 23349811, 23752183, 24019458, 24088787, 24403228, 24607787, 24727894, 24823909, 25130271, 25712462, 25719802, 25909225, 26198640, 26497355, 26509262, 27599661, 28035382, 28189566, 28209613, 28220803, 28602980, 28614631, 28697756, 28741117, 28895566, 29108267, 29257301, 29505302, 29536528, 29629558, 29658569, 29691294, 29755115, 29849951, 30125550, 30241050, 30352998, 30532005, 30774387, 30809864, 30819007, 30904606, 30987323, 31027362, 31042325, 31387608, 31649488, 31719098, 9635571		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	23844214, 25360740, 27067790	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	31658259		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10206308, 11792709, 16334164, 17522055, 17979146, 18218096, 18561248, 19001380, 19233958, 19850036, 20537156, 21880738, 22276222, 22493441, 22820499, 22860065, 23349811, 23752183, 24358122, 24413182, 24823909, 25633614, 25658610, 25719802, 25909225, 26037169, 26252009, 27067790, 27196755, 27588482, 28614631, 28678327, 28961847, 29206234, 29229583, 30241050, 30365080, 30532005, 30700322, 30779066, 30937835, 31889959, 31986411, 32328032, 32904490, 33441906, 33630978, 33740948, 33894313, 33947326, 34157052, 34697900, 35131873, 35204839, 35589707, 36036607, 36312753, 36503162, 37628609, 37772770	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	11921277, 18819930, 25670168, 27375020, 31719098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11921277, 15455387, 16291872, 16428447, 17466258, 17979146, 18008331, 18459111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17363566, 29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20454608	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28697756	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
prostatitis	Prostatitis	BEFREE	25360740		★☆☆☆☆ Found in Text Mining only
Protanomaly	Protanomaly	BEFREE	26315281, 27629364, 28336942, 30171668		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28501007, 31091001		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	31089877	Associate	★☆☆☆☆ Found in Text Mining only
PTEN Hamartoma Tumor Syndrome	PTEN Hamartoma Tumor Syndrome	BEFREE	22520842, 24379584		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	17389479, 25053875		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26787464, 31773709		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	26787464, 27188753	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21490961, 34105356	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	21908588, 21980461, 28883453, 29765214, 33045470, 34125980, 34561292, 37936118	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29659176		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19104148, 22241478, 22670697, 23526221, 25175023, 26781174, 27586205, 28244647, 28731277, 29029436, 29216763, 30136377, 30586565, 30869194, 31298961, 31550972		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	22241478, 33707405	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	11454429, 11592095, 15300804, 21521850, 25023548, 28335081, 28370249		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	11012986, 18765951, 20459685, 22180573, 24384091, 26142394, 27981554, 30528740		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10690524, 11012986, 11123760, 11780196, 12796377, 17873895, 18949430, 18950731, 20814228, 22516360, 23094073, 23588815, 23893409, 24384091, 25658088, 27981554, 28223537, 28260916, 28969047, 29549930, 30844790, 31485634, 31516388, 31729097		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	24637293, 26956838		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	24637293, 26956838		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	22670697, 24455745, 28440442, 28444861, 28701694, 29802483, 30298654, 31076505, 31243340		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	23850018		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	30058695		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	31773706		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33951416	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	12057910, 35484165	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28356444, 30208636		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	33350591	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Perforations	Retinal Perforations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	10798643		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16799619, 19676131, 20546333, 23339186, 24355977, 25207834, 26662307, 28861168, 29287592, 29901196, 30024609, 31033463, 31819510		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	26662307, 28550678, 29287592, 30024609, 31033463, 32277664, 32561925, 34268999, 35297943, 39738380	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	36555252	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	16704491		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	19222307, 23999248, 30568936		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	23999248, 35796028, 39368853	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	23999248	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	22142829, 23999248	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20840015, 28151034, 30909750, 31258713		★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	12439911, 28328801	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	24853424, 32650834	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	29224720		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	21146388		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21146388	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	11007041, 15307134, 16465411, 16733209, 18376386, 19898427, 23112547, 23483189, 26259251, 26414222, 27780915, 29566950, 31016642, 31180539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	15913453, 24019980, 32461620, 39778225	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	35628499	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	15375433, 18376386, 19898427, 32385140	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	29386236, 32544094	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	35676319	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	15855650, 29131245	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	10189891, 15375433, 16740029, 24294365, 26842923, 27325236, 27334220, 36920288	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20615089, 23598903, 25041379, 26027441, 29507296, 30280518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20615089, 23598903		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	25041379, 29507296, 30280518	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	30280518	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	22328118, 31178673, 37587067, 38570030	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	26034868, 29236566	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	32448279, 37031322, 37302424	Associate	★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	22458737		★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	30575820		★☆☆☆☆ Found in Text Mining only
Secondary Adrenal Insufficiency	Adrenal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27765918, 27835580		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	27461702	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	30390643	Inhibit	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35239776	Associate	★☆☆☆☆ Found in Text Mining only
Sertoli Cell Tumor	Sertoli Cell Tumor	BEFREE	27801954		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	CLINVAR_DG	24668549, 2614104, 27915094		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	30929091		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability-progressive spastic diplegia syndrome	Intellectual Disability And Progressive Spastic Diplegia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	20215350		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	24459012		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	35154161	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	22458737		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	20559121	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	10192393, 11517342, 14633602, 28218467, 29369390		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	14633602, 23690679, 28300597	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	21303455		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28847728, 29115924		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15712207, 19609729, 19812504, 35838343	Associate	★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	10894600		★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	26998835		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	10189891, 10834386, 15540161, 18715618, 26645457		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	LHGDN	17090192		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	24590288, 28252047		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	31656088	Associate	★☆☆☆☆ Found in Text Mining only
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	12632098, 24061522, 27801954		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	20215423		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12532436, 15916880, 16084063, 17679465, 18223693, 18455580		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12888830, 14633602, 14752418, 15380172, 15641992, 15814622, 15893000, 16163548, 16219633, 16848985, 17309796, 17577324, 17679465, 20363046, 20508033, 20855955, 20878057, 21617878, 21643019, 21932035, 22081448, 22721621, 23736260, 24511551, 24893577, 25403422, 25503133, 25869879, 27498289, 27529071, 28551620, 28815780, 28915721, 29181101, 29250652, 29693240, 30514297, 30720068, 30986748, 31318467		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10096251, 10709091, 11193470, 11782388, 12498294, 14752418, 15333466, 15514942, 17309796, 17384664, 17552014, 17951630, 18602747, 19664078, 19857041, 20140245, 20457486, 20491588, 21610149, 25217103, 25588924, 25641762, 25749389, 26738870, 27329034, 27414086, 27721245, 28260072, 29054489, 29158807, 29771416, 30730015, 30880778, 31040705, 31191005, 31233197, 31278587, 31638260, 31789057, 31851619		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11271788, 12888830, 19915524, 20028760, 21206167, 22197995, 22507326, 22526207, 23406730, 23519607, 23703614, 23730900, 23999978, 24511551, 24722213, 24893577, 25209444, 25374218, 25524937, 25869879, 25980437, 26040764, 26241451, 26493274, 26617938, 27036044, 27529071, 28112190, 28337453, 28486965, 28671055, 29250652, 29900911, 30143678, 30468475, 30556871, 31127452, 31342798, 31379206, 31422218, 32065407, 32400862, 32432743, 32458620, 32728068, 32794417, 33723940, 33761659, 34486492, 34564680, 34755560, 35493294, 35951144, 36232859, 36768316, 36813772, 36990154, 37010585, 37032609, 37077062, 37291150, 37573347, 37592847, 37986347, 38063205, 39875049	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37445628	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25588924, 27498289, 31160489		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	24893577		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	19716018, 26493274, 28815780		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	17679465, 31754399		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16273222, 20028760, 23280187, 23730900, 24871033, 25104726, 25209444, 28138036, 28551620, 28589081, 29243047, 29312802, 29771197, 30029671, 31111621, 31127452, 31345665		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	19360298, 23357878, 25001480, 26759260, 27831944, 28521453, 28804564, 29071717, 29699939, 31097406		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26311355, 28341391, 28671671		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	16733209, 28292937		★☆☆☆☆ Found in Text Mining only
Stevens-Johnson Syndrome	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	9600336		★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	26968164		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10485468, 11147171, 11163116, 11241321, 11445844, 11494032, 11604997, 11747475, 11756228, 11788899, 12692839, 12721245, 14517582, 15135482, 15138556, 15245777, 15467739, 15609344, 15895459, 16651426, 16740781, 16830381, 17149756, 17163846, 17295679, 17297461, 17393422, 17400182, 18330950, 19223545, 19475529, 19958059, 20025482, 21678082, 21750908, 22104201, 22246241, 22407433, 22723903, 22848100, 22918686, 22970250, 23055201, 23135750, 23708208, 23749771, 23843035, 24077348, 24337893, 24535143, 24676361, 24788044, 24809965, 25861021, 26033320, 26417932, 26467157, 26530498, 26762410, 26872378, 27082441, 27121204, 27146881, 27694893, 28260026, 28268166, 28401003, 28454326, 28481365, 28534934, 28550303, 28671020, 28739741, 28994231, 29030742, 29090670, 29273006, 29348665, 29374064, 29374493, 29393470, 29422112, 29559846, 29620286, 29960070, 30008840, 30063079, 30127921, 30134915, 30165890, 30171989, 30178386, 30419872, 30483755, 30579603, 30632714, 30635820, 30792218, 30858758, 30904482, 30980943, 31138169, 31413736, 31452758, 31632151, 31649207, 31692499, 31747856, 31816819		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	12439911, 16948518, 24528029, 36064550	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10604738, 11125285, 11747475, 12439911, 12460462, 16830381, 17149756, 17663505, 17982235, 18330950, 19051296, 19060929, 19413886, 19688824, 19798449, 19930158, 20525401, 20529814, 21494638, 22710759, 22723903, 22970250, 23055201, 23196062, 24008668, 24197976, 24507671, 24528029, 25400723, 25656989, 25822437, 25861021, 25967717, 26215716, 26733174, 26940070, 27146881, 27198692, 27333045, 27384994, 27406052, 27636990, 27660242, 27708434, 27846906, 27983934, 28152305, 28260026, 28337962, 28358374, 28387908, 28422983, 28534934, 28671020, 29364479, 29374493, 29393470, 29422112, 29540196, 29559846, 29565486, 29689047, 29986466, 30079558, 30379370, 30479464, 30542715, 30593147, 30803215, 31378888, 31599413, 31741457, 31868807, 32028241, 32091407, 32212290, 32216582, 32468065, 32532891, 32570120, 32571331, 32607811, 32608501, 32704077, 32751694, 32753474, 32894544, 33173977, 33232276, 33426068, 33431761, 33458917, 33637015, 33900127, 33994849, 34042257, 34275925, 34326621, 34385891, 34486534, 34546849, 34669363, 35287556, 35341446, 35534546, 35633558, 35848483, 35864742, 35900480, 36064550, 36082059, 36153370, 36153608, 36171238, 36201856, 36439876, 36528911, 36551233, 36604355, 36762306, 36786018, 36838824, 37147954, 37460253, 37702613, 37973999, 38058023, 38358183, 39206977, 39349535, 39473403, 40225854, 9765619	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15138556, 15896469, 16132582, 16311123, 17393422, 18330950		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	26537717, 27769064	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	12011973		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	33350591	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	22167233, 30760287	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	26820677, 30762013		★☆☆☆☆ Found in Text Mining only
Syndactyly Cenani Lenz type	Syndactyly	Pubtator	20381006	Associate	★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	11054718, 11213832, 11920741, 16733209, 16740029, 26259251, 29202462, 31043173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syringomyelia	Syringomyelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22328737, 25185156		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	12824925, 14745729, 15643509, 27037061, 30509083		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	12824925		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	31125668		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10690524, 11123760, 20582552, 20864366, 27472396		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	18158575		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Teratoma	Teratoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	30390643, 35575252	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	29788434		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	37749917	Associate	★☆☆☆☆ Found in Text Mining only
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	BEFREE	22843502		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	LHGDN	18619646		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	30582392		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	28323122	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	24722292, 26101855		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	31593984		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11092973, 19223551, 21814573, 25547151, 26416247, 27713418, 28277188, 29243023, 29630517, 30165731, 30272290, 30534810, 32198408, 32291398, 32373973, 32495886, 33000217, 34281460, 34927541, 36856760, 39376176	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	27840971		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11092973, 11238046, 12786894, 16263821, 21940753, 23261982, 28352188, 28513866, 28864377, 28968956, 29023429, 31288899, 31669575		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899, 31077090, 36773307, 37351847, 39376176	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11092973, 11238046, 11696170, 15095272, 16263821, 18474620, 21940753, 23261982, 28352188, 28864377, 28968956, 29023429, 31288899, 31669575		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18316596		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	11092973, 11238046, 23979959, 25576899, 33125134, 35198054, 35442371, 35795862, 36820560	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroiditis	Thyroiditis	Pubtator	20067378	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	11206273, 23103626, 26036631	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	CTD_human_DG	25811541		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	20864366, 26192362		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19322062		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	24209998		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22649545, 23307470, 24143235, 24188694, 24260469, 24944076, 25658419, 25848952, 25857298, 27281609, 27902969, 27959422, 28494797, 28674186, 28889723, 28923385, 29069872, 29260344, 29287960, 29316250, 29491053, 29693154, 29760406, 29783777, 29974851, 30053090, 30096373, 30248540, 30248941, 30351203, 30352320, 30505272, 30509108, 30572639, 30691241, 30854067, 30885980, 30905819, 30941948, 31059004, 31174562, 31298383, 31338333, 31488700		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22649545, 24143235, 24188694, 25068292, 25848952, 27208794, 27281609, 27902969, 28247948, 28423652, 28674186, 30941948, 31059004, 31298383, 31390375, 31545274, 31960967, 32430683, 32578856, 32665537, 33832512, 33911067, 34336161, 34389690, 34450253, 34726255, 34785625, 34863149, 35499320, 35507080, 35524313, 35551175, 35715860, 36231027, 36949468, 37634232, 38169627, 38306303, 39294214	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	28346476		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	15972957		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	27918305	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	10666372, 28961847, 32293346, 32620917	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	10759189, 12867802, 23629955		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	10204808, 11920497, 17445872, 18223333, 21799775, 24379584		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11238046, 24451280		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	30738287		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	18044981		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	16367920	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22049531, 23226455, 26069102, 26173102, 26192362, 26369384, 26541358, 26614845, 26643891, 26684800, 26932430, 28081738, 28199978, 28337959, 29250666, 29549123, 29620261, 29863246, 30032142, 30229818, 30237499, 30475758, 30509050, 30556853, 31042695, 31077629, 31298320, 31431517, 31500788, 31809208, 32112862, 32277642, 32282334, 33122695, 33423167, 33537076, 34484235, 34565009, 34708131, 35008872, 35628130, 36074678, 36140796, 36331809, 39456780, 40269880	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28705118	Stimulate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	20421722, 22951176, 25349215	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	16557569, 26614845, 28088268		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	26841870, 30194005		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23826417, 24289604, 32533343, 34257574	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	11520139		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	25061499		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10780674, 11893906, 21873353, 23301094, 23819460, 25973056, 26560046, 27081037, 27513465, 28448437, 28902356, 29079964, 29115417, 29271990, 29363722, 29863244, 30322153, 30484490, 30678687, 30829552, 31059008, 31266530, 31284780, 31298313, 31682716, 32058219, 32271410, 32343512, 32572909, 33096476, 33649791, 33903885, 34269004, 34309414, 34372865, 34510826, 34564982, 35587604, 36177903, 36674577, 36750722, 36809563, 37306343, 37329997, 37986152, 39273054, 39273365, 9218005	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	14675348	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27843945	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Diseases	Uterine polyp	Pubtator	25144715, 26722510, 35327987	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	17072826, 22768200, 23517922, 23704310, 24082114, 27407137, 27898339, 29066531, 30168888, 30458994, 31043173, 31761932		★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	32388637	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	28455241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	31960425, 33579337, 33721449	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van der Woude syndrome	Van der woude syndrome	Pubtator	24442519	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	22874762, 27082570, 36930472, 37728820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	30272329	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	28173817, 35410639	Associate	★☆☆☆☆ Found in Text Mining only
VATER association	Vacterl association	Pubtator	24516707	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	22475572	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30782246		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	30929091, 33350591, 35246174	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	23403405		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28214208		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	30206310	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28214208		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	33350591, 33759344	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	26005854		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	23474492, 25399296		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	27852007		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	12761165, 12890743, 15579438, 17172473, 17551084, 17873895, 18618575, 19416806, 20332316, 22081130, 22409817, 22437966, 22470196, 23333300, 25331950, 26274016, 26317783, 27213811, 28825729, 30155617, 30671724, 31298321, 33090393, 34515328, 35795985	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	20696052	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	26464492		★☆☆☆☆ Found in Text Mining only