RET (ret proto-oncogene)

Gene

• Entrez ID: 5979
• Gene name: Ret proto-oncogene
• Gene symbol: RET
• Synonyms (NCBI Gene): CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1
• Chromosome: 10
• Chromosome location: 10q11.21
• Summary: This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800858	A>C,G	Risk-factor, benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs2435357	T>C	Risk-factor, benign	Genic upstream transcript variant, intron variant
rs17158558	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, benign-likely-benign, benign, uncertain-significance	Missense variant, coding sequence variant
rs34682185	G>A	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs55846256	C>A,T	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs55947360	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs74799832	T>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs75030001	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs75075748	T>C	Risk-factor	Missense variant, coding sequence variant
rs75076352	T>A,C,G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs75225191	C>T	Risk-factor, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75234356	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs75686697	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs75873440	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs75996173	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs76087194	G>A	Risk-factor	Missense variant, coding sequence variant
rs76262710	T>A,C,G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs76397662	G>A	Pathogenic, benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs76449634	C>T	Risk-factor	Stop gained, genic upstream transcript variant, coding sequence variant
rs76534745	A>G	Risk-factor	Missense variant, coding sequence variant
rs76764689	C>T	Likely-pathogenic, risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs77316810	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs77503355	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs77558292	T>A,C,G	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs77596424	C>T	Risk-factor	Missense variant, genic upstream transcript variant, coding sequence variant
rs77702891	G>A,T	Risk-factor, uncertain-significance	Missense variant, coding sequence variant
rs77709286	C>G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs77711105	G>A	Benign-likely-benign, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs77724903	A>G,T	Benign-likely-benign, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs77939446	G>A,C,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs78014899	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs78098482	C>A	Risk-factor	Missense variant, coding sequence variant
rs78347871	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs78935588	C>G	Pathogenic	Missense variant, coding sequence variant
rs79014735	G>A,T	Uncertain-significance, risk-factor	Stop gained, missense variant, genic upstream transcript variant, coding sequence variant
rs79658334	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs79661516	G>A	Risk-factor	5 prime UTR variant, missense variant, coding sequence variant
rs79781594	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs79853121	C>A,T	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs79890926	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs80069458	C>G,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs80236571	G>A	Risk-factor	Missense variant, coding sequence variant
rs115272158	C>T	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121913308	A>C,G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913309	TGTTTATGAAGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs121913312	GAGCTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs121913313	TTCCCTGAGGAGGAGAAGTGCTTCTGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs139790943	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs141679950	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, genic upstream transcript variant, coding sequence variant
rs142338976	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143795581	A>C,G	Pathogenic, likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs143862573	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant
rs146646971	G>C,T	Likely-benign, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs147219360	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs148935214	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign	Coding sequence variant, missense variant
rs151148041	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs192489011	G>A,T	Likely-benign, benign, benign-likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs193922699	A>G	Likely-pathogenic	Splice acceptor variant
rs201620214	G>A	Likely-benign, pathogenic	Coding sequence variant, synonymous variant
rs201740483	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201745826	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs267607010	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs267607011	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs369116900	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370736139	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs377130948	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs377767389	GC>CT	Pathogenic	Coding sequence variant, missense variant
rs377767391	T>A,C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs377767394	A>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767395	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs377767397	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs377767398	GC>AT,CT,TT	Pathogenic	Coding sequence variant, missense variant
rs377767399	GAG>-	Uncertain-significance, pathogenic, benign	Coding sequence variant, inframe deletion
rs377767400	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs377767402	G>A	Likely-benign, uncertain-significance, pathogenic, benign	Coding sequence variant, missense variant
rs377767404	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs377767405	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767406	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767408	GCTGT>CGTGC	Pathogenic	Coding sequence variant, missense variant
rs377767409	GC>TG	Pathogenic	Coding sequence variant, missense variant
rs377767410	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767411	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767412	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, synonymous variant
rs377767416	A>G	Uncertain-significance, pathogenic, benign	Coding sequence variant, missense variant
rs377767418	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767419	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767421	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs377767423	G>T	Pathogenic	Coding sequence variant, missense variant
rs377767426	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767429	GC>TT	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs377767432	C>A,T	Uncertain-significance, pathogenic, benign	Coding sequence variant, missense variant
rs377767434	->AGGAGTGTG	Pathogenic	Coding sequence variant, inframe insertion
rs377767435	CGA>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs377767436	->ACGAGCTGTGCC	Pathogenic	Coding sequence variant, inframe insertion
rs377767437	->TGCCGCACG	Pathogenic	Coding sequence variant, inframe insertion
rs377767438	A>GACCTGTGCCGCC	Pathogenic	Coding sequence variant, inframe indel
rs377767439	A>C,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377767440	G>TTCT	Pathogenic	Coding sequence variant, inframe indel
rs377767441	A>T	Pathogenic	Coding sequence variant, missense variant
rs377767442	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs387906531	G>C	Pathogenic	Coding sequence variant, missense variant
rs537874538	G>A	Likely-pathogenic, uncertain-significance, likely-benign, not-provided	Coding sequence variant, missense variant
rs545625150	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs551159582	C>T	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, intron variant
rs553418132	C>G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs561276725	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs751572082	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs755606269	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs774347808	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs779996040	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794727130	GCAGTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728687	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728689	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs794728691	C>-	Pathogenic	Stop gained, coding sequence variant
rs886041443	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1060500759	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691861	T>G	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1483605155	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554817395	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs1554818362	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554818540	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1554818555	GAGGGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1554818626	C>G	Pathogenic	Missense variant, coding sequence variant
rs1554818784	CT>TC	Pathogenic	Missense variant, coding sequence variant
rs1554818959	T>A	Pathogenic	Missense variant, coding sequence variant
rs1564489315	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1564490097	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1564491460	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1564494285	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564500612	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1564501934	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1588862638	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1588866040	G>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1588872865	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1588873476	G>A	Likely-pathogenic	Splice donor variant
rs1588874068	TG>CT	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004969	hsa-miR-31-5p	Luciferase reporter assay, qRT-PCR	19524507
MIRT005908	hsa-miR-29a-3p	qRT-PCR	21169019
MIRT024374	hsa-miR-215-5p	Microarray	19074876
MIRT026714	hsa-miR-192-5p	Microarray	19074876
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438613	hsa-miR-218-5p	Flow, Luciferase reporter assay	23022987
MIRT438612	hsa-miR-128-3p	Flow, Luciferase reporter assay	23022987
MIRT438611	hsa-miR-27b-3p	Flow, Luciferase reporter assay	23022987
MIRT438610	hsa-miR-15a-5p	Flow, Luciferase reporter assay	23022987
MIRT438609	hsa-miR-195-5p	Flow, Luciferase reporter assay	23022987
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438713	hsa-miR-129-5p	qRT-PCR, Western blot	24631532
MIRT438613	hsa-miR-218-5p	Flow, Luciferase reporter assay	23022987
MIRT438612	hsa-miR-128-3p	Flow, Luciferase reporter assay	23022987
MIRT438611	hsa-miR-27b-3p	Flow, Luciferase reporter assay	23022987
MIRT438610	hsa-miR-15a-5p	Flow, Luciferase reporter assay	23022987
MIRT438609	hsa-miR-195-5p	Flow, Luciferase reporter assay	23022987
MIRT438610	hsa-miR-15a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31496725
MIRT755690	hsa-miR-146b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, Immunofluorescence	38844639
MIRT1300930	hsa-miR-140-3p	CLIP-seq
MIRT1300931	hsa-miR-3065-3p	CLIP-seq
MIRT1300932	hsa-miR-3667-5p	CLIP-seq
MIRT1300933	hsa-miR-4693-5p	CLIP-seq
MIRT1300934	hsa-miR-103a	CLIP-seq
MIRT1300935	hsa-miR-106a	CLIP-seq
MIRT1300936	hsa-miR-106b	CLIP-seq
MIRT1300937	hsa-miR-107	CLIP-seq
MIRT1300938	hsa-miR-1185	CLIP-seq
MIRT1300939	hsa-miR-1200	CLIP-seq
MIRT1300940	hsa-miR-1264	CLIP-seq
MIRT1300941	hsa-miR-1301	CLIP-seq
MIRT1300942	hsa-miR-145	CLIP-seq
MIRT1300943	hsa-miR-146a	CLIP-seq
MIRT755690	hsa-miR-146b-5p	CLIP-seq
MIRT1300944	hsa-miR-148a	CLIP-seq
MIRT1300945	hsa-miR-148b	CLIP-seq
MIRT1300946	hsa-miR-152	CLIP-seq
MIRT1300947	hsa-miR-154	CLIP-seq
MIRT1300948	hsa-miR-15a	CLIP-seq
MIRT1300949	hsa-miR-15b	CLIP-seq
MIRT1300950	hsa-miR-16	CLIP-seq
MIRT1300951	hsa-miR-17	CLIP-seq
MIRT1300952	hsa-miR-1910	CLIP-seq
MIRT1300953	hsa-miR-1911	CLIP-seq
MIRT1300954	hsa-miR-195	CLIP-seq
MIRT1300955	hsa-miR-200b	CLIP-seq
MIRT1300956	hsa-miR-200c	CLIP-seq
MIRT1300957	hsa-miR-204	CLIP-seq
MIRT1300958	hsa-miR-2054	CLIP-seq
MIRT1300959	hsa-miR-20a	CLIP-seq
MIRT1300960	hsa-miR-20b	CLIP-seq
MIRT1300961	hsa-miR-211	CLIP-seq
MIRT1300962	hsa-miR-2117	CLIP-seq
MIRT1300963	hsa-miR-219-2-3p	CLIP-seq
MIRT1300964	hsa-miR-2278	CLIP-seq
MIRT1300965	hsa-miR-2392	CLIP-seq
MIRT1300966	hsa-miR-296-5p	CLIP-seq
MIRT1300967	hsa-miR-299-5p	CLIP-seq
MIRT1300968	hsa-miR-3117-5p	CLIP-seq
MIRT1300969	hsa-miR-3121-3p	CLIP-seq
MIRT1300970	hsa-miR-3127-3p	CLIP-seq
MIRT1300971	hsa-miR-3144-5p	CLIP-seq
MIRT1300972	hsa-miR-3155	CLIP-seq
MIRT1300973	hsa-miR-3155b	CLIP-seq
MIRT1300974	hsa-miR-3174	CLIP-seq
MIRT1300975	hsa-miR-3189-3p	CLIP-seq
MIRT1300976	hsa-miR-3191	CLIP-seq
MIRT1300977	hsa-miR-346	CLIP-seq
MIRT1300978	hsa-miR-3529	CLIP-seq
MIRT1300979	hsa-miR-3591-3p	CLIP-seq
MIRT1300980	hsa-miR-3605-5p	CLIP-seq
MIRT1300981	hsa-miR-3609	CLIP-seq
MIRT1300982	hsa-miR-361-3p	CLIP-seq
MIRT1300983	hsa-miR-361-5p	CLIP-seq
MIRT1300984	hsa-miR-3622b-5p	CLIP-seq
MIRT1300985	hsa-miR-3647-3p	CLIP-seq
MIRT1300986	hsa-miR-3660	CLIP-seq
MIRT1300987	hsa-miR-3664-3p	CLIP-seq
MIRT1300988	hsa-miR-3671	CLIP-seq
MIRT1300989	hsa-miR-3677-5p	CLIP-seq
MIRT1300990	hsa-miR-3679-5p	CLIP-seq
MIRT1300991	hsa-miR-3682-5p	CLIP-seq
MIRT1300992	hsa-miR-3688-5p	CLIP-seq
MIRT1300993	hsa-miR-374c	CLIP-seq
MIRT1300994	hsa-miR-377	CLIP-seq
MIRT1300995	hsa-miR-379	CLIP-seq
MIRT1300996	hsa-miR-424	CLIP-seq
MIRT1300997	hsa-miR-4251	CLIP-seq
MIRT1300998	hsa-miR-4257	CLIP-seq
MIRT1300999	hsa-miR-4266	CLIP-seq
MIRT1301000	hsa-miR-4273	CLIP-seq
MIRT1301001	hsa-miR-4274	CLIP-seq
MIRT1301002	hsa-miR-4288	CLIP-seq
MIRT1301003	hsa-miR-4289	CLIP-seq
MIRT1301004	hsa-miR-429	CLIP-seq
MIRT1301005	hsa-miR-4293	CLIP-seq
MIRT1301006	hsa-miR-4310	CLIP-seq
MIRT1301007	hsa-miR-4317	CLIP-seq
MIRT1301008	hsa-miR-4318	CLIP-seq
MIRT1301009	hsa-miR-4324	CLIP-seq
MIRT1301010	hsa-miR-4432	CLIP-seq
MIRT1301011	hsa-miR-4438	CLIP-seq
MIRT1301012	hsa-miR-4503	CLIP-seq
MIRT1301013	hsa-miR-4519	CLIP-seq
MIRT1301014	hsa-miR-452	CLIP-seq
MIRT1301015	hsa-miR-4524	CLIP-seq
MIRT1301016	hsa-miR-4526	CLIP-seq
MIRT1301017	hsa-miR-4640-3p	CLIP-seq
MIRT1301018	hsa-miR-4652-5p	CLIP-seq
MIRT1301019	hsa-miR-4659a-3p	CLIP-seq
MIRT1301020	hsa-miR-4659b-3p	CLIP-seq
MIRT1301021	hsa-miR-4667-3p	CLIP-seq
MIRT1301022	hsa-miR-4668-5p	CLIP-seq
MIRT1301023	hsa-miR-4676-3p	CLIP-seq
MIRT1301024	hsa-miR-4684-3p	CLIP-seq
MIRT1301025	hsa-miR-4690-5p	CLIP-seq
MIRT1300933	hsa-miR-4693-5p	CLIP-seq
MIRT1301026	hsa-miR-4695-5p	CLIP-seq
MIRT1301027	hsa-miR-4709-3p	CLIP-seq
MIRT1301028	hsa-miR-4712-5p	CLIP-seq
MIRT1301029	hsa-miR-4732-5p	CLIP-seq
MIRT1301030	hsa-miR-4779	CLIP-seq
MIRT1301031	hsa-miR-4783-3p	CLIP-seq
MIRT1301032	hsa-miR-4796-3p	CLIP-seq
MIRT1301033	hsa-miR-4797-3p	CLIP-seq
MIRT1301034	hsa-miR-484	CLIP-seq
MIRT1301035	hsa-miR-485-3p	CLIP-seq
MIRT1301036	hsa-miR-494	CLIP-seq
MIRT1301037	hsa-miR-495	CLIP-seq
MIRT1301038	hsa-miR-497	CLIP-seq
MIRT1301039	hsa-miR-499-5p	CLIP-seq
MIRT1301040	hsa-miR-503	CLIP-seq
MIRT1301041	hsa-miR-5047	CLIP-seq
MIRT1301042	hsa-miR-5096	CLIP-seq
MIRT1301043	hsa-miR-510	CLIP-seq
MIRT1301044	hsa-miR-512-5p	CLIP-seq
MIRT1301045	hsa-miR-514	CLIP-seq
MIRT1301046	hsa-miR-514b-3p	CLIP-seq
MIRT1301047	hsa-miR-519d	CLIP-seq
MIRT1301048	hsa-miR-520d-5p	CLIP-seq
MIRT1301049	hsa-miR-520f	CLIP-seq
MIRT1301050	hsa-miR-524-5p	CLIP-seq
MIRT1301051	hsa-miR-541	CLIP-seq
MIRT1301052	hsa-miR-544	CLIP-seq
MIRT1301053	hsa-miR-544b	CLIP-seq
MIRT1301054	hsa-miR-545	CLIP-seq
MIRT1301055	hsa-miR-548ah	CLIP-seq
MIRT1301056	hsa-miR-549	CLIP-seq
MIRT1301057	hsa-miR-558	CLIP-seq
MIRT1301058	hsa-miR-580	CLIP-seq
MIRT1301059	hsa-miR-587	CLIP-seq
MIRT1301060	hsa-miR-589	CLIP-seq
MIRT1301061	hsa-miR-590-3p	CLIP-seq
MIRT1301062	hsa-miR-596	CLIP-seq
MIRT1301063	hsa-miR-604	CLIP-seq
MIRT1301064	hsa-miR-607	CLIP-seq
MIRT1301065	hsa-miR-610	CLIP-seq
MIRT1301066	hsa-miR-616	CLIP-seq
MIRT1301067	hsa-miR-626	CLIP-seq
MIRT1301068	hsa-miR-632	CLIP-seq
MIRT1301069	hsa-miR-643	CLIP-seq
MIRT1301070	hsa-miR-644	CLIP-seq
MIRT1301071	hsa-miR-646	CLIP-seq
MIRT1301072	hsa-miR-647	CLIP-seq
MIRT1301073	hsa-miR-649	CLIP-seq
MIRT1301074	hsa-miR-654-3p	CLIP-seq
MIRT1301075	hsa-miR-654-5p	CLIP-seq
MIRT1301076	hsa-miR-655	CLIP-seq
MIRT1301077	hsa-miR-767-3p	CLIP-seq
MIRT1301078	hsa-miR-770-5p	CLIP-seq
MIRT1301079	hsa-miR-802	CLIP-seq
MIRT1301080	hsa-miR-873	CLIP-seq
MIRT1301081	hsa-miR-885-5p	CLIP-seq
MIRT1301082	hsa-miR-892a	CLIP-seq
MIRT1301083	hsa-miR-93	CLIP-seq
MIRT1301084	hsa-miR-936	CLIP-seq
MIRT1301085	hsa-miR-941	CLIP-seq
MIRT2089443	hsa-miR-1238	CLIP-seq
MIRT1300994	hsa-miR-377	CLIP-seq
MIRT1300957	hsa-miR-204	CLIP-seq
MIRT1300961	hsa-miR-211	CLIP-seq
MIRT2314308	hsa-miR-3161	CLIP-seq
MIRT2314309	hsa-miR-382	CLIP-seq
MIRT1301005	hsa-miR-4293	CLIP-seq
MIRT2314310	hsa-miR-4719	CLIP-seq
MIRT2314311	hsa-miR-4724-3p	CLIP-seq
MIRT2314312	hsa-miR-513b	CLIP-seq
MIRT1301062	hsa-miR-596	CLIP-seq
MIRT1301081	hsa-miR-885-5p	CLIP-seq
MIRT1301054	hsa-miR-545	CLIP-seq
MIRT1301067	hsa-miR-626	CLIP-seq
MIRT1301054	hsa-miR-545	CLIP-seq
MIRT1301067	hsa-miR-626	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Unknown	21737465;21947652
FOXA1	Unknown	21947652
NKX2-1	Repression	19853745
SOX10	Activation	20977903
SOX10	Unknown	14523991
TFAP2C	Unknown	22878616

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001838	Process	Embryonic epithelial tube formation	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	7824936
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	24560924, 28846099, 31535977
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	9575150, 11445581
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10545102, 11536047, 16569669, 17471236, 20877310, 21994944, 25241761, 25416956, 25910212, 28846097, 28846099, 28953886, 35044719, 35384245, 39009827
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9575150
GO:0005886	Component	Plasma membrane	IDA	19823924, 28953886
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007158	Process	Neuron cell-cell adhesion	IEA
GO:0007158	Process	Neuron cell-cell adhesion	IMP	21357690
GO:0007165	Process	Signal transduction	TAS	7824936
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0007497	Process	Posterior midgut development	TAS	8114939
GO:0010008	Component	Endosome membrane	IDA	19823924
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IMP	17910947
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030155	Process	Regulation of cell adhesion	IDA	21357690
GO:0030182	Process	Neuron differentiation	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	20702524
GO:0030424	Component	Axon	IBA
GO:0033619	Process	Membrane protein proteolysis	IDA	21357690
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IDA	20702524
GO:0035799	Process	Ureter maturation	IEA
GO:0035860	Process	Glial cell-derived neurotrophic factor receptor signaling pathway	IDA	24560924, 25242331, 28953886, 31535977
GO:0038023	Function	Signaling receptor activity	TAS	7824936
GO:0042551	Process	Neuron maturation	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	28846099
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	28953886
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS	17047028
GO:0048265	Process	Response to pain	IEA
GO:0048265	Process	Response to pain	ISS
GO:0048484	Process	Enteric nervous system development	IEA
GO:0050770	Process	Regulation of axonogenesis	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	28846097
GO:0061146	Process	Peyer's patch morphogenesis	IEA
GO:0061146	Process	Peyer's patch morphogenesis	ISS
GO:0071300	Process	Cellular response to retinoic acid	IMP	17910947
GO:0072300	Process	Positive regulation of metanephric glomerulus development	IEA
GO:0072300	Process	Positive regulation of metanephric glomerulus development	ISS	17047028
GO:0097021	Process	Lymphocyte migration into lymphoid organs	ISS
GO:0098797	Component	Plasma membrane protein complex	IDA	10545102
GO:0160144	Process	GDF15-GFRAL signaling pathway	IDA	31535977
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	10921886
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS	21357690

Other IDs

• MIM: 164761
• HGNC: 9967
• e!Ensembl: ENSG00000165731

Protein

• UniProt ID: P07949
• Protein name: Proto-oncogene tyrosine-protein kinase receptor Ret (EC 2.7.10.1) (Cadherin family member 12) (Proto-oncogene c-Ret) [Cleaved into: Soluble RET kinase fragment; Extracellular cell-membrane anchored RET cadherin 120 kDa fragment]
• Protein function: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN,
• PDB: 2IVS, 2IVT, 2IVU, 2IVV, 2X2K, 2X2L, 2X2M, 2X2U, 4CKI, 4CKJ, 4UX8, 5AMN, 5FM2, 5FM3, 6FEK, 6GL7, 6I82, 6I83, 6NE7, 6NEC, 6NJA, 6Q2J, 6Q2N, 6Q2O, 6Q2R, 6Q2S, 6VHG, 7DU8, 7DU9, 7DUA, 7JU5, 7JU6, 7NZN, 7RUN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17756	RET_CLD1	29 → 154	RET Cadherin like domain 1	Domain
  PF00028	Cadherin	172 → 262	Cadherin domain	Domain
  PF17812	RET_CLD3	265 → 379	RET Cadherin like domain 3	Domain
  PF17813	RET_CLD4	404 → 507	RET Cadherin like domain 4	Domain
  PF07714	PK_Tyr_Ser-Thr	724 → 1005	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MAKATSGAAGLRLLLLLLLPLLGKVALGLYFSRDAYWEKLYVDQAAGTPLLYVHALRDAP
  EEVPSFRLGQHLYGTYRTRLHENNWICIQEDTGLLYLNRSLDHSSWEKLSVRNRGFPLLT
  VYLKVFLSPTSLREGECQWPGCARVYFSFFNTSFPACSSLKPRELCFPETRPSFRIRENR
  PPGTFHQFRLLPVQFLCPNISVAYRLLEGEGLPFRCAPDSLEVSTRWALDREQREKYELV
  AVCTVHAGAREEVVMVPFPVTVYDEDDSAPTFPAGVDTASAVVEFKRKEDTVVATLRVFD
  ADVVPASGELVRRYTSTLLPGDTWAQQTFRVEHWPNETSVQANGSFVRATVHDYRLVLNR
  NLSISENRTMQLAVLVNDSDFQGPGAGVLLLHFNVSVLPVSLHLPSTYSLSVSRRARRFA
  QIGKVCVENCQAFSGINVQYKLHSSGANCSTLGVVTSAEDTSGILFVNDTKALRRPKCAE
  LHYMVVATDQQTSRQAQAQLLVTVEGSYVAEEAGCPLSCAVSKRRLECEECGGLGSPTGR
  CEWRQGDGKGITRNFSTCSPSTKTCPDGHCDVVETQDINICPQDCLRGSIVGGHEPGEPR
  GIKAGYGTCNCFPEEEKCFCEPEDIQDPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCY
  HKFAHKPPISSAEMTFRRPAQAFPVSYSSSGARRPSLDSMENQVSVDAFKILEDPKWEFP
  RKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLK
  QVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDH
  PDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVY
  EEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERL
  FNLLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAA
  STPSDSLIYDDGLSEEETPLVDCNNAPLPRALPSTWIENKLYGMSDPNWPGESPVPLTRA
  DGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS

• Sequence length: 1114

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Pathways in cancer
Thyroid cancer
Non-small cell lung cancer
Central carbon metabolism in cancer

Reactome:

RAF/MAP kinase cascade
RET signaling

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
Aganglionic megacolon	Pathogenic; Likely pathogenic	rs77316810, rs77503355, rs76764689, rs77558292, rs79890926, rs377767391, rs1564491460, rs1564489315, rs1564490097, rs751572082, rs1564500612, rs1564501934, rs1588872865	RCV000736276 RCV000678747 RCV000678742 RCV000736274 RCV004018329 RCV000736275 RCV000824755 RCV000678744 RCV000736270 RCV000736272 RCV000736273 RCV000736278 RCV000736280 RCV000853370 RCV000857245	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Appendicitis	Likely pathogenic; Pathogenic	rs767479170	RCV001289999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs1837613320	RCV001293844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial medullary thyroid carcinoma	Likely pathogenic; Pathogenic	rs2538470328, rs146646971, rs76262710, rs75076352, rs75996173, rs79781594, rs77503355, rs74799832, rs76534745, rs78014899, rs77939446, rs75030001, rs377767434, rs77558292, rs79658334, rs75873440, rs75234356, rs143795581	RCV003492764 RCV001589145 RCV002470710 RCV001310209 RCV005394154 RCV000014929 RCV000014934 RCV005394155 RCV001292662 RCV005042054 RCV005394158 RCV000014954 RCV000014956 RCV000496009 RCV000014961 RCV000014968 RCV000014970 RCV000014971 RCV001804750 RCV000014973 RCV000014977 RCV000014979 RCV002496436 RCV001027731 RCV000984325	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Pathogenic	rs78014899	RCV002280861	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2538642532, rs2491935478, rs2538384541, rs2492162199, rs2538470328, rs2132776227, rs377767404, rs2538480268, rs2538494024, rs2538404853, rs368345402, rs2538484349, rs146646971, rs2132817885, rs1838178513, rs567241943, rs76262710, rs75076352, rs75996173, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs78014899, rs77939446, rs79890926, rs75030001, rs77558292, rs79658334, rs75873440, rs75234356, rs2538550904, rs377767396, rs377767391, rs377767397, rs377767405, rs377767406, rs377767412, rs143795581, rs377767442, rs377767429, rs1397494237, rs767479170	RCV002325980 RCV002342361 RCV002364235 RCV002346831 RCV002403881 RCV002389791 RCV002407971 RCV002401656 RCV002408164 RCV002435695 RCV002438113 RCV004091716 RCV000219014 RCV005724990 RCV003274351 RCV003361060 RCV002408462 RCV001013616 RCV000129490 RCV004668731 RCV002408463 RCV001013348 RCV000568259 RCV002408464 RCV000163338 RCV001013621 RCV002255998 RCV002255999 RCV002256000 RCV001015022 RCV000562113 RCV000566125 RCV002453262 RCV001013426 RCV001013275 RCV000210181 RCV000561258 RCV001012358 RCV001016276 RCV004524643 RCV004950822 RCV006292350 RCV004018655 RCV000565237 RCV002408472 RCV000163667 RCV000571381 RCV000575015 RCV004943733 RCV002408473 RCV005479231 RCV000219970 RCV002408474 RCV000567780 RCV000570730 RCV002408486 RCV002258320 RCV002412658 RCV000569893 RCV002408487 RCV002408488 RCV002426530 RCV000163610 RCV002453279 RCV002433481 RCV003298037 RCV001011763 RCV004035575	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hirschsprung disease, susceptibility to, 1	Likely pathogenic; Pathogenic	rs537874538, rs2538470328, rs2132777851, rs146646971, rs1838178513, rs76262710, rs75996173, rs77316810, rs77503355, rs75076352, rs74799832, rs76534745, rs76764689, rs76449634, rs77939446, rs79658334, rs75234356, rs2538598662, rs1477699803, rs2538616392, rs377767412, rs143795581, rs193922699, rs75030001, rs1564494285, rs1588873476, rs1588866040, rs1838178869	RCV002289465 RCV003492764 RCV002472204 RCV003462451 RCV003150912 RCV004760333 RCV003989285 RCV003324711 RCV005394155 RCV003460479 RCV001542764 RCV000014947 RCV000014948 RCV000014950 RCV005394158 RCV003460480 RCV003460494 RCV005394161 RCV002490368 RCV003990331 RCV003990837 RCV004555733 RCV001353180 RCV002466411 RCV001535750 RCV000030404 RCV004820824 RCV003466882 RCV000721942 RCV000825021 RCV000853339 RCV001089963	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited phaeochromocytoma and paraganglioma excluding NF1	Likely pathogenic; Pathogenic	rs74799832, rs79658334	RCV005865181 RCV005865197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medullary thyroid carcinoma	Likely pathogenic; Pathogenic	rs74799832, rs75234356, rs143795581	RCV000417859 RCV003387503 RCV000148771	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEN2 phenotype: Unclassified	Likely pathogenic; Pathogenic	rs146646971, rs75076352, rs77503355, rs79658334, rs75234356, rs377767397, rs78014899	RCV004767168 RCV001420921 RCV004782015 RCV000586783 RCV001804732 RCV005237400 RCV002307370 RCV003226171	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple endocrine neoplasia	Pathogenic	rs79658334	RCV000487450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple endocrine neoplasia II	Pathogenic	rs75234356	RCV003387503	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple endocrine neoplasia type 2A	Likely pathogenic; Pathogenic	rs146646971, rs2538548922, rs76262710, rs75076352, rs75996173, rs80069458, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs76534745, rs77939446, rs75030001, rs78935588, rs79658334, rs75873440, rs75234356, rs77558292, rs377767391, rs377767397, rs377767405, rs377767406, rs143795581, rs377767440, rs78014899, rs377767442	RCV002463360 RCV003316935 RCV000014919 RCV000014922 RCV000014924 RCV000014926 RCV000014928 RCV000014932 RCV000014933 RCV000014935 RCV000014936 RCV000014937 RCV000014939 RCV000175096 RCV005042054 RCV000014953 RCV000114391 RCV000173889 RCV000014960 RCV000014969 RCV004018626 RCV000499191 RCV000596480 RCV003335040 RCV000014978 RCV004589374 RCV005425703 RCV003233027 RCV005409607 RCV004018656 RCV000709757 RCV003315507 RCV005420517 RCV002496436 RCV000174156 RCV004064341 RCV003316853 RCV003233028 RCV000411546 RCV000709758 RCV000426266 RCV003315527	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple endocrine neoplasia type 2B	Likely pathogenic; Pathogenic	rs146646971, rs75996173, rs77503355, rs75076352, rs74799832, rs76534745, rs76262710, rs79658334, rs75234356, rs143795581, rs78014899, rs377767429, rs1838178970, rs121913307	RCV002463360 RCV000425364 RCV001262460 RCV005394155 RCV004795411 RCV000014941 RCV005042054 RCV000411165 RCV000427260 RCV004795938 RCV005394161 RCV000425892 RCV002496436 RCV002477001 RCV000410061 RCV000021873 RCV001199205 RCV001267832	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple endocrine neoplasia, type 2	Likely pathogenic; Pathogenic	rs2132777891, rs1588862595, rs2132664999, rs2132656224, rs577929869, rs2132767341, rs2132747295, rs2132664970, rs2132776227, rs2538404690, rs377767409, rs2538496158, rs2538405579, rs2538460738, rs146646971, rs2538548922, rs2132662772, rs76262710, rs75076352, rs75996173, rs80069458, rs79781594, rs77316810, rs77503355, rs77709286, rs74799832, rs76764689, rs76449634, rs78014899, rs77939446, rs79890926, rs75030001, rs77558292, rs79658334, rs75873440, rs75234356, rs2538471466, rs2538494024, rs2538424730, rs2132768560, rs2538423470, rs377767396, rs377767391, rs377767397, rs377767404, rs377767405, rs377767406, rs377767412, rs143795581, rs377767440, rs1060500759, rs377767442, rs377767398, rs377767429, rs1564500612, rs1588862638, rs1483605155, rs1588873476, rs1397494237, rs1837778621, rs1837854100	RCV001376832 RCV001381227 RCV001381565 RCV002010657 RCV001906929 RCV002007525 RCV001908987 RCV001906653 RCV003095239 RCV002863139 RCV002848185 RCV002903757 RCV003054991 RCV003041045 RCV000556223 RCV004009734 RCV003533956 RCV000228834 RCV000654584 RCV000476408 RCV000021824 RCV000471652 RCV002513055 RCV000161938 RCV000232285 RCV000021801 RCV000552504 RCV000459040 RCV000161926 RCV002514098 RCV001206325 RCV000233944 RCV000021792 RCV000021842 RCV000168107 RCV000021789 RCV000021849 RCV000021802 RCV001851862 RCV000148773 RCV000021854 RCV000469127 RCV000227193 RCV003532511 RCV003645988 RCV003646305 RCV003646334 RCV003646748 RCV005101401 RCV000021782 RCV000021784 RCV000021787 RCV000475953 RCV000548660 RCV000824755 RCV000654593 RCV000021807 RCV002513161 RCV000821103 RCV000021838 RCV000467461 RCV002572537 RCV000461915 RCV000533887 RCV001908064 RCV003533237 RCV000032040 RCV000021798 RCV000021820 RCV000032037 RCV000539138 RCV000021853 RCV000032039 RCV003062257 RCV002514127 RCV003532254 RCV000796315 RCV000814670 RCV003532285 RCV002549346 RCV001237306 RCV001244607	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	Pathogenic	rs77939446, rs79890926	RCV000014958 RCV000014959	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA	Pathogenic	rs377767436	RCV000014955	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs2132708181, rs79658334	RCV003154779 RCV003153308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pheochromocytoma	Likely pathogenic; Pathogenic	rs146646971, rs75076352, rs75996173, rs77503355, rs77709286, rs74799832, rs76534745, rs79658334, rs75234356, rs143795581	RCV002463360 RCV000014923 RCV000014925 RCV000014927 RCV000014930 RCV005394155 RCV000014938 RCV000014940 RCV000014943 RCV005042054 RCV005394158 RCV004795938 RCV005394161 RCV002490368 RCV002496436 RCV002477001	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RET-related disorder	Pathogenic; Likely pathogenic	rs2132747295, rs146646971, rs2132817885, rs1278030644, rs2538615387, rs2538569005, rs1837729713, rs2538402891, rs2132983720, rs1465353841, rs75996173, rs75076352, rs74799832, rs76449634, rs77939446, rs77558292, rs79658334, rs75234356, rs2538496650, rs77316810, rs76262710	RCV004542167 RCV004532784 RCV004538899 RCV003335957 RCV004527910 RCV004539017 RCV004531651 RCV004529806 RCV004534211 RCV004529778 RCV004739307 RCV004739308 RCV004532351 RCV004528111 RCV004532352 RCV004724742 RCV004528141 RCV004724743 RCV004542649 RCV004724753 RCV003335051 RCV004532475	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs1564494285	RCV000721942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid carcinoma, sporadic medullary	Likely pathogenic; Pathogenic	rs74799832	RCV000014942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid gland carcinoma	Likely pathogenic; Pathogenic	rs75076352	RCV000677899	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal facial shape	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL RENAL AGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast-ovarian cancer, familial, susceptibility to, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURKITT LYMPHOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, MEDULLARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEYS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital central hypoventilation	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DIGESTIVE SYSTEM ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elevated basal serum calcitonin	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewing sarcoma of soft tissue	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Family history of cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease, Dominant	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, protection against	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma non-WNT/non-SHH	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacolon	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pilocytic astrocytoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal hypodysplasia/aplasia 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal hypoplasia/aplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, MEDULLARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER, PAPILLARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CARCINOMA, FAMILIAL MEDULLARY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	Pubtator	22879958, 30355600	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	20739875, 30975543		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	24315414, 29654265		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	BEFREE	9858145		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia, minimal differentiation	Myeloid Leukemia	BEFREE	9858145		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	9858145		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	9858145		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22327623, 23150706, 23932363, 24504365, 26182302, 26762747, 27334835, 27635639, 28490466, 31715421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	17899288, 31715421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22194472, 22327622, 22327624, 23052255, 23150706, 23154560, 23342255, 23461584, 23533264, 23558310, 23578175, 23927882, 23932363, 23991695, 24037524, 24315414, 24346100, 24629636, 24722152, 25064355, 25122427, 25234288, 25303898, 25436805, 25467930, 25760072, 25773866, 25855381, 25884512, 25975578, 26268359, 26424208, 26437441, 26469915, 26762747, 26845116, 27150058, 27494860, 27496134, 27563816, 27615396, 27794403, 27825636, 27873490, 28082048, 28460442, 28500237, 28502721, 28877471, 28911147, 29039585, 29251734, 29284153, 29473341, 29549897, 29571998, 30653139, 31226468, 31710864		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	25230579, 28092668, 28261999, 30515799		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	16595592, 24559275, 28816539		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	BEFREE	30349383		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10646882, 10773666, 11463498, 11932334, 15126554, 17639054, 22751117, 8675600		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12608895		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	BEFREE	20459574		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15875728, 24702198, 27623068, 28314770, 9841749		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	9167953, 9703361		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	10426588, 10458257, 10487688, 10522989, 10526879, 10691056, 10728700, 10731788, 10838497, 10953992, 10998441, 11103773, 11134110, 11182843, 11280716, 11404820, 11753660, 11821960, 12000816, 12150334, 12187076, 12381538, 12419172, 12686527, 12864791, 12928344, 1350670, 1353939, 14500403, 14557473, 14974911, 15233556, 15292360, 15592804, 15630638, 15875728, 15883705, 16098468, 16343103, 16388093, 16525712, 16728571, 1701232, 17102076, 17102077, 17102081, 17102082, 17102083, 17102093, 17102110, 17119341, 17188172, 17466010, 17525480, 17527003, 17639058, 17898100, 18063059, 18307724, 18726616, 18805915, 18936155, 19343621, 19399650, 19475497, 19551609, 20039896, 20080836, 20236688, 20505258, 20923864, 20980436, 21784903, 21834681, 21896620, 22183643, 22274720, 22573489, 22584703, 22751117, 22846739, 23210566, 23416954, 23512077, 23652668, 23652676, 24030942, 24361808, 24375508, 24449023, 24466223, 24616415, 24623741, 24969991, 25379023, 25425582, 25694125, 26071011, 26438242, 26457501, 26497911, 26708403, 26765577, 26839173, 26884116, 27539324, 27704398, 27807060, 28099363, 28231563, 28432847, 28455835, 28569245, 28605116, 28698189, 28747092, 28925363, 28946813, 29159601, 29217652, 29408964, 29518759, 29779047, 29779869, 30049837, 30072953, 30113649, 30300539, 31278686, 31734934, 7478523, 7563486, 7595167, 7608256, 7616358, 7627269, 7627271, 7852530, 7913936, 7943181, 8099202, 8556060, 8561803, 8570194, 8592333, 8732460, 8768845, 8804229, 8810737, 8912182, 8964826, 8976870, 9018112, 9146685, 9167962, 9179691, 9215674, 9294615, 9467562, 9478934, 9502784, 9559344, 9879991		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33615670	Associate	★☆☆☆☆ Found in Text Mining only
African Burkitt`s lymphoma	African Burkitt`s Lymphoma	CTD_human_DG	23143597		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	11685702, 15982921, 17021738, 17640327, 18081917, 18280283, 18493886, 19556619, 19853744, 22174939, 25638620, 27717313, 28342760		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	CTD_human_DG	8114938, 8896568		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Rectosigmoid Colon	Colonic Aganglionosis	CTD_human_DG	8114938, 8896568		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	21242589		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36759259	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	28938186		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	8757765	Associate	★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	19445625, 26356818	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	CTD_human_DG	12864791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, Primary Cutaneous	Amyloidosis	BEFREE	26356818, 30049837, 7914213, 8752835, 8757765, 9111993		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10023033		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11165748, 19809427, 25260367		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	10934169, 12608895, 17222251, 18498667		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	28747092		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	10646883, 12729478, 15785245, 15880523, 17270245, 19370508, 20950609, 24267151, 24295207, 25456951, 27259715, 27618325, 28489587, 29976183		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	28930629	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21311890, 28092668		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	38155384	Associate	★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	23726368		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	Pubtator	34981673	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10233855	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19500021	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24295207		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	24150225	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22833194	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	11747322, 15472167, 16405407		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	10554356, 15308259		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	10922382	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	22158616, 27219469		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	26623561		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	26884431	Stimulate	★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	25436805	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	36646211	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly Type B1	Brachydactyly	Pubtator	10986040	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10408842		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20030644, 27503856, 30429449	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18089803, 20531297, 21251878, 21737465, 23936147, 24346100, 24467886, 24526731, 25257380, 25971960, 26240273, 26686064, 26832794, 27034161, 27105531, 27960236, 28418883, 30446652, 30621641, 31425920		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	12853700, 15530851, 16457687, 17189388, 18853468, 19372587, 21707964, 21814748, 21947652, 21978374, 23334330, 23650283, 24466333, 24467886, 24519943, 25971960, 26716506, 27034161, 27153554, 27863425, 27903634, 30189722, 30621641, 30962283, 31059536, 32348852, 32957504, 33040720, 33374832, 34190716, 34710947, 36124682, 37061618, 37569547, 37779428, 37972337, 39671698	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	10447463		★☆☆☆☆ Found in Text Mining only
Burkitt Leukemia	Burkitt`s Lymphoma	CTD_human_DG	23143597		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	CTD_human_DG	23143597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	23143597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	BEFREE	11037345, 11376404, 11502806, 11939755, 12085189, 12089863, 12410354, 12679485, 14555929, 14557476, 14561794, 14602786, 15523405, 15588381, 16707008, 17384213, 18976163, 19484261, 22584703, 24361808, 26876062, 26945007, 27409604, 29336779, 29656518, 30884088, 7985085, 8094268, 8849577, 9263528, 9301617		★☆☆☆☆ Found in Text Mining only
C-cell hyperplasia of thyroid	Thyroid Hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	19282698, 29326158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	22729463, 24429398, 31471357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Capillary hemangioma of retina	Capillary Hemangioma Of Retina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10646882, 11742034, 21112821, 23279575, 24722152, 27469332, 28196140, 28257124, 28647780, 29197744, 30467698, 31821746, 34234737, 35220468, 35705526, 36166639, 36543142, 7627269	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	23444222, 40234130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10566678, 12684664, 14668719, 15968271, 16290057, 17639054, 19147628, 22803838, 23150706, 23746767, 23856031, 24973511, 25303898, 26510840, 29443014, 30515799, 31558784, 7495285, 8761374, 9162191		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	31219820, 35900506, 36229858	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	33628594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	36788083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25251599, 28350084, 32100934, 34710947, 36433941	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	29443014, 30610524, 31162284, 31427558, 31989433, 32661669, 33991527, 34985683	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26317919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	10550306, 18976013, 36936146	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25500544		★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	BEFREE	29951718		★☆☆☆☆ Found in Text Mining only
Carcinoma of Endocrine Gland	Endocrine Gland cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20944145, 21847121, 22194472, 22327622, 23052255, 23154560, 23342255, 23856031, 23991695, 24346100, 24418728, 25047660, 25064355, 25303898, 25384085, 25520033, 25723109, 25982012, 26762747, 27056998, 27686809, 27825636, 27873490, 28082048, 28181564, 29571998, 29885946, 29908090, 29912274, 30941048, 31058838, 31554640, 31739795		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	16858191, 20922806, 27259358, 27321183, 31162284, 31311829, 36409970	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15841082, 19473483, 19888345, 21396847, 25120806, 26287733, 27092013, 36471407, 37898101, 38131663	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	38057798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20237991, 22009481, 35705526, 39518907	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33402119	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11841368, 12786818, 8658145		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20721741, 29158468		★☆☆☆☆ Found in Text Mining only
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	22946697	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	28594148	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28594148	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	31697865		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	22210082		★☆☆☆☆ Found in Text Mining only
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	CTD_human_DG	12086152, 9497256		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	BEFREE	9565426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	ORPHANET_DG	9565426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34697068, 35478117	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	28423517	Associate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	27329764		★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	27273837		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29496177		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	24315414		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	32948239	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28566702		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22751117, 29665843, 30210625		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	22751117, 28179590	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	14742435	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	16431664, 310801		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18612427, 21110809, 22327622, 22751117, 24560444, 25163468, 26078337, 27118999, 29538669, 30038711, 30210625, 30811036		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14742435, 18612427, 21170361, 21464950, 22751117, 24205104, 24475022, 24560444, 25926053, 26078337, 26351322, 27118999, 29045518, 29538669, 30535864, 31545548, 31548566, 31782259, 33414136, 34405229, 34710947, 34741450, 35008821, 35237889, 35584350, 36053834, 37686416, 40743555	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30038711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33906292	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	33615670	Associate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	12914250		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	12865274, 22879958	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	11316186, 18252215, 21490379, 24152999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	11316186, 18252215, 21490379, 24152999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	CTD_human_DG	18252215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	ORPHANET_DG	18252215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	10023663, 11454140, 18252215		★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	UNIPROT_DG	12086152, 14566559, 9497256		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	CTD_human_DG	12086152, 9497256		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	16443855, 17397038, 28433712, 8826440, 9565426		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	GENOMICS_ENGLAND_DG	9497256		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation	Congenital Central Hypoventilation	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	28433712	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1384673, 15188460, 16215979, 22558328		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1C	Congenital disorder of glycosylation	Pubtator	29443014	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	16015630	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	23436219	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	BEFREE	18414682, 20123584		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	GWASCAT_DG	19196962, 25310821, 27702942, 30031151		★☆☆☆☆ Found in Text Mining only
Congenital Intestinal Aganglionosis	Congenital Intestinal Aganglionosis	CTD_human_DG	8114938, 8896568		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	9703361		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31043488		★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	30355600	Associate	★☆☆☆☆ Found in Text Mining only
Cranial nerve compression	Cranial nerve compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	10922382	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	22729463	Associate	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	9703361		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	9703361	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	19561646, 22189301, 24858900		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	12165857		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	9380706	Associate	★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	20824794	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	17167516		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19306335, 21490379, 27086544	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	24572151	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	29912274	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated thyroid carcinoma	Thyroid Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	12729478, 15933516, 19898969, 22690899, 23828865, 24325646, 24405857, 24510380, 25330015, 25455162, 28704099, 29131865, 29446856		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	BEFREE	23805210, 28152033		★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular disease	Pubtator	28152033	Inhibit	★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular disease	Pubtator	31019703	Associate	★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	31019703		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10458491, 17397038, 19306335, 22325379, 30218169		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	10458491, 19306335	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	31162284		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	31162284		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	27610696, 29066476, 30624503, 8825918	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	20824047, 35563746	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine Gland Neoplasms	Endocrine Gland Neoplasms	BEFREE	22584707		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	16839263, 17037976, 18248648, 19269918, 26708403, 9003111, 9677065		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	29608602	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29263244		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35978072, 37686416	Associate	★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15805664		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33274363	Associate	★☆☆☆☆ Found in Text Mining only
Episodic paroxysmal anxiety	Episodic paroxysmal anxiety	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29158468		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	BEFREE	15750914, 22050474		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27172793, 36978187	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31072725		★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	30653139	Associate	★☆☆☆☆ Found in Text Mining only
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	BEFREE	10878547, 9509062		★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	28423517		★☆☆☆☆ Found in Text Mining only
Familial Isolated Hyperparathyroidism	Hyperparathyroidism	BEFREE	10396361, 11966738, 15292357, 7903311		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	8757765		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	10024437, 10090311, 10323403, 10372725, 10445857, 10622534, 10652352, 10822229, 10826520, 10876191, 10951350, 11241313, 11280716, 11289752, 11331212, 11389085, 11429053, 11454140, 11502806, 11524247, 11589684, 11673360, 11839664, 11849247, 11932300, 12016484, 12019403, 12409662, 12604374, 12694233, 12711285, 12734540, 12746565, 12864791, 14602786, 14624789, 14668737, 15271413, 15271414, 15277225, 15345114, 15472167, 15516777, 15523405, 15588382, 15606376, 15753368, 15753673, 15982921, 15991157, 16029119, 16384843, 16419493, 16451770, 16634961, 16649977, 16712668, 16736292, 16865647, 16940797, 16954442, 16955009, 17037976, 17208566, 17209045, 17308850, 17573899, 17895320, 18174722, 18282654, 18316595, 18365214, 18765511, 18771606, 18805915, 19169500, 19465682, 19522830, 19638924, 19826964, 19841562, 20119574, 20373984, 20497437, 20516206, 21054478, 21134565, 21228881, 21311890, 21325462, 21422799, 21655256, 21688339, 21690267, 21857107, 22038905, 22068382, 22584721, 22676344, 22965292, 23211574, 23652668, 23744408, 23744765, 23780998, 24449662, 24699901, 24716929, 24828033, 24845513, 24882762, 24993783, 25163725, 25501606, 25624014, 25733075, 26356818, 26945007, 27271930, 27807060, 28315378, 29336779, 29396759, 29656518, 30321177, 30717909, 31510104, 7491519, 7563185, 7595167, 7784092, 7824936, 7835899, 7845675, 7864888, 7874109, 7881414, 7902324, 7913025, 7913027, 7915165, 7919923, 7987299, 8093642, 8103403, 8557249, 8563482, 8570194, 8579892, 8612479, 8625130, 8654369, 8663426, 8733882, 8768845, 8807338, 8829625, 8849577, 8855832, 8917360, 8981015, 9018112, 9035202, 9067749, 9068588, 9090493, 9097963, 9111992, 9111993, 9146685, 9150704, 9160884, 9167949, 9191060, 9223675, 9230192, 9259198, 9263528, 9288142, 9384613, 9467562, 9617347, 9681850, 9727201, 9747064, 9818022, 9820617, 9824378, 9879991, 9950371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	CLINVAR_DG	10323403		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	UNIPROT_DG	10323403, 10826520, 11692159, 7784092, 7845675, 7849720, 7874109, 7881414, 7915165, 8103403, 8557249, 8625130, 8807338, 9223675, 9259198, 9398735, 9452077, 9506724, 9621513, 9677065		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	ORPHANET_DG	10443680, 20833330		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	10484798, 10622534, 11429053, 12409662, 16158949, 17065770, 17704047, 20119574, 20516206, 21479187, 21655256, 22747440, 23201134, 23563004, 24449023, 24716929, 24805091, 25694125, 26356818, 26758973, 28647780, 30936199, 31510104, 32408902, 32458635, 33402557, 37175550, 38027168, 7627269, 7906417, 8093642, 8556059, 8732448, 8829625, 9263528, 9617347, 9681852, 9950371	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	CTD_human_DG	12864791, 7915165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
familial non-medullary thyroid cancer	Thyroid cancer	BEFREE	21049463		★☆☆☆☆ Found in Text Mining only
Familial Nonmedullary Thyroid Cancer	Thyroid cancer	CTD_human_DG	28030816		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	BEFREE	16299679		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	27062580		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	8319199		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12608895, 15203751, 15588246, 15785245, 16889486, 20130073, 20950609, 28261999, 29582677, 29683529, 9315093, 9466701		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11227733, 12192544, 12608895, 12729478, 12951842, 15356021, 20950609, 21778212, 22690899, 23025542, 24510380, 24559275, 25736215, 26510840, 27207655, 28017809, 28114855, 29046324, 29108474, 29731874, 30673845, 30902456, 8608782		★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	29197384	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	8246962		★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	10023663, 16518596, 8912182, 9700574		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	20532249		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	20532249, 35647935	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	11334388, 18521081, 19164557, 20231287, 20512492, 25349971, 25659388, 27469332, 27965460, 29206199, 30488756, 35499757, 35904169, 36921738, 38191907, 40133893	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	24623741, 31439578		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	24810336	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	25085632		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	33727696	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	9541448	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20030644, 21408136, 23690991, 23874926, 25500544, 25943352, 25980499, 28208648, 29342193, 31000415, 31290679, 32669109, 34041811, 35055167, 35075231, 36496976, 37494539, 39849652	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28751462, 29886801		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21311890, 28751462, 29886801		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19519771, 25500544, 25980499, 26091668, 26700815, 35894143, 36496976, 37349135, 38109857	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	38260132	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	18820179, 22729463	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	12914250		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12684664, 30902456		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32948239	Associate	★☆☆☆☆ Found in Text Mining only
Haddad syndrome	Haddad Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	29049491		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	22846739		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11747322, 12665650, 15472167, 16405407, 16595592, 17900235, 20012784, 20738253, 27802347, 30659000, 31686862		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	LHGDN	11927965, 17900235		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	40269951	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	19906784, 20237991, 25500544, 28025482, 35461210	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24681018	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	24983371	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	27960236, 28796396		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	15339674, 25978653, 37778450, 9834219	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19956182		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	24315414		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	9380706	Associate	★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	29912274	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	21947652	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23967248	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	15965261, 31252403, 8592333, 9301617, 9727201		★☆☆☆☆ Found in Text Mining only
hereditary neuroblastoma	Neuroblastoma	BEFREE	8786083		★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	16001332, 24375508, 9509062		★☆☆☆☆ Found in Text Mining only
Hereditary Paraganglioma-Pheochromocytoma Syndrome	Hereditary Paraganglioma-Pheochromocytoma Syndromes	CLINGEN_DG	10522989, 10675330, 12000816, 20039896, 21784903, 28162975, 7824936, 8099202, 8825918, 8918855, 9012462, 9294615		★☆☆☆☆ Found in Text Mining only
Hereditary pheochromocytoma-paraganglioma	Hereditary Pheochromocytoma-Paraganglioma	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	11071380	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	10023663, 10204848, 10220148, 10323403, 10369718, 10401675, 10458491, 10484767, 10528857, 10549772, 10591552, 10618407, 10646792, 10790203, 10812967, 10859088, 10922382, 10946353, 10978357, 10980580, 10982477, 11032856, 11302967, 11316186, 11371032, 11390647, 11409869, 11436122, 11438491, 11544105, 11585664, 11774071, 11935126, 11953745, 11955539, 11973622, 12165857, 12214285, 12355085, 12439935, 12474140, 12652644, 12720173, 12734540, 12865274, 12872262, 12915470, 12939698, 14523991, 14600022, 15013219, 15138456, 15472167, 15548547, 15633231, 15643606, 15750914, 15759212, 15805159, 15829955, 15834508, 15956201, 15982921, 15991157, 16144862, 16269442, 16441254, 16443855, 16534860, 16618617, 16632597, 16634961, 16816022, 16818057, 16877807, 16979782, 16986122, 17009072, 17021738, 17036197, 17091122, 17108762, 17208566, 17274802, 17297624, 17397038, 17436255, 17640327, 17934909, 18081917, 18090939, 18206480, 18280283, 18285831, 18365214, 18414682, 18493886, 18612588, 18661771, 18665368, 18772120, 18936155, 18970938, 19040714, 19183406, 19196962, 19282698, 19306335, 19556619, 19666486, 19826964, 19853744, 19853745, 20123584, 20152359, 20361209, 20454948, 20456320, 20473317, 20532249, 20598273, 20850627, 20977903, 21042811, 21206993, 21222160, 21349203, 21490379, 21737465, 21858136, 21986619, 21995290, 22050474, 22131258, 22169991, 22174939, 22325379, 22377709, 22584707, 22584708, 22648184, 22815266, 22837065, 22974609, 23001136, 23114404, 23400839, 23441071, 23527089, 23528997, 23605783, 23744765, 24152999, 24528961, 24613280, 24651702, 24794774, 24845202, 24897126, 24972642, 25267720, 25310821, 25475805, 25638620, 25666438, 25786906, 26164711, 26191260, 26395553, 26829565, 26933947, 26950000, 27034161, 27203398, 27273837, 27338539, 27370899, 27409604, 27693352, 27704398, 28256518, 28342760, 28433712, 28799054, 29261189, 29379196, 29601828, 29965875, 30031151, 30056070, 30072953, 30218169, 30502294, 30644554, 30693022, 30843358, 31240788, 31313802, 31609069, 31666091, 31715421, 31767031, 7478601, 7579825, 7581377, 7633441, 7643365, 7647787, 7704557, 7716719, 7760237, 7784092, 7802041, 7815416, 7881414, 7902707, 7904208, 8114938, 8114939, 8467706, 8570194, 8579892, 8630502, 8630503, 8675603, 8758905, 8776023, 8786083, 8791480, 8801315, 8826440, 8877363, 8882403, 8894691, 8896569, 8901418, 8909322, 8968758, 9027489, 9035201, 9035202, 9043870, 9047383, 9067749, 9094027, 9094028, 9126763, 9138898, 9174404, 9230192, 9259198, 9384613, 9391239, 9393766, 9478934, 9498388, 9502784, 9516825, 9545641, 9565426, 9681852, 9718651, 9727738, 9745455, 9760196, 9824583, 9840920, 9879991, 9881709		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung disease	Pubtator	10204848, 10369718, 10458491, 10528857, 10618407, 10922382, 10978357, 11302967, 11390647, 11445581, 11535584, 12065680, 12214285, 12439935, 12474140, 12865274, 15633231, 15805159, 15956201, 16534860, 16618617, 16816022, 17108762, 18248681, 18772120, 19196962, 19282698, 19306335, 19666486, 19925665, 20089534, 20123584, 20361209, 20532249, 20598273, 21283760, 21349203, 21490379, 21858136, 21995290, 22174939, 22395866, 22648184, 23372769, 23527089, 24152999, 24805091, 24845202, 24897126, 25267720, 25310821, 25437590, 25475805, 25666438, 26191260, 26395553, 26829565, 26933947, 27034161, 27717313, 28256518, 28342760, 28433712, 28930629, 29261189, 29379196, 31666091, 31767031, 32139661, 32948239, 33178831, 33342844, 34006365, 34092334, 36443333, 37490568, 37948459, 38623803, 7643365, 7815416, 8630503, 9575150, 9681852, 9824583, 9881906	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CLINVAR_DG	10790203, 11073534, 11502806, 14715928, 14718397, 16565500, 17372903, 18206480, 19336503, 19469690, 19853744, 20979234, 21765987, 21986619, 23744765, 24972642, 25694125, 27207748, 27847096, 29020875, 7633441, 7874109, 7881414, 8918855, 9090527, 9223675, 9230192, 9681852, 9879991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	LHGDN	11953745, 11953748, 11955539, 12355085, 12439935, 12474140, 12720173, 12872262, 12939698, 14600022, 15469971, 15633231, 15829955, 15834508, 15956201, 16269442, 16986122, 17397038, 17440194, 18090939, 18414682, 18438890, 18612588, 18772120, 19183406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	GWASCAT_DG	19196962, 25310821, 27702942, 30031151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	GWASDB_DG	19196962		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease	Hirschsprung Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	CTD_human_DG	8114938, 8896568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Histiocytosis	Histiocytosis	BEFREE	31768065		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	23744765		★☆☆☆☆ Found in Text Mining only
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	BEFREE	12652644		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23744765		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	9703361	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	15870131, 21449769		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	LHGDN	17138574		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	22369086	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	10220148, 10458257, 10691056, 12864791, 15233556, 15355445, 15606374, 16299679, 26497911, 29779869, 8675600, 8957482, 9146685, 9467562, 9736899, 9820617		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	19034701, 26497911, 29983117	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	17527003, 23547958, 24684035, 33233395, 37465121, 38027168	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	15870131, 16356097, 22274720, 23547958, 23652668, 23652676, 24969991, 27704398, 30641515, 9467562		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	LHGDN	17527003		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	29659895		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism-Jaw Tumor Syndrome	Hyperparathyroidism-Jaw Tumor Syndrome	BEFREE	10396361, 11966738, 15606374, 28674121		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	12085189, 12409662, 21655256, 39842635, 7915822, 9263528	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22035350, 31062739	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive Retinopathy	Hypertensive Retinopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	15472167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	35674115	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	30034590		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29152045		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32761646	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	31578734		★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	30708048		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	10369718, 27717313	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	10790203		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal obstruction	Pubtator	32948239	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	20123584		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	11502837		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	28299633, 31496915		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30034590, 30413627		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	9179691		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	22513837		★☆☆☆☆ Found in Text Mining only
Kabuki syndrome	Kabuki syndrome	Pubtator	35676000	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18252215, 22035350, 36408280	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	22031517		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	36845229	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30936199, 31618586, 7761424	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	9368476, 9858145		★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	17259998	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11468194, 12036858, 12969963, 14670924, 16868253, 17498302, 20056794, 22212957, 23321254, 23393162, 25715404, 26172401, 27535106, 28727840, 30389660, 30936199, 32092139, 37392657, 9108413	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	16619525	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16849538, 23022987, 24315414, 27780967, 29263244, 29654265, 9108413, 9368476, 9858145		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	22513837, 24315414		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	23578175		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	25749382, 28423517		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	20522586	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25374061, 28350084, 29433850, 30415263, 30447042, 30671808		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	21847121, 22194472, 23052255, 23108047, 23342255, 23533264, 24285539, 24346100, 24418728, 24759083, 25477232, 25546157, 25982012, 26073592, 26424208, 26762747, 27056998, 27179848, 27825636, 28145866, 28181564, 28447912, 28914263, 29121914, 29667179, 29908090, 30115026, 30131091, 30943926, 30972901, 31228623, 31316108, 32587276, 32930123, 33082208, 33272981, 33588111, 33602172, 33758332, 34710947, 35304457, 35305401, 35718095, 35816050, 36089134, 36471407, 36646211, 36996232, 36996322, 37121144, 37277734, 37445709, 37478265, 37762506, 38198957	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	23154560, 25064355, 26268359, 27496134, 29743166		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17297624		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	10484798, 16203990, 20119574, 22676344, 26829565, 27563816, 27779515, 27841128, 29901149, 30254191, 30467698, 30903583, 32732929, 37081757, 37188126, 40269951	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33906292	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24346100, 29496177		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28342760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	25644941		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18089803, 20531297, 21251878, 21737465, 23936147, 24467886, 24526731, 25257380, 25971960, 26240273, 26686064, 26832794, 27034161, 27105531, 27602955, 27960236, 28418883, 29219214, 29608602, 30040982, 30446652, 30621641, 31425920, 31715421		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	9917130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20944145, 21847121, 22194472, 22327622, 23052255, 23154560, 23342255, 23533264, 23856031, 23991695, 24346100, 24418728, 25047660, 25064355, 25303898, 25384085, 25520033, 25546157, 25723109, 25982012, 26424208, 26762747, 27056998, 27646564, 27686809, 27825636, 27873490, 28011461, 28181564, 28447912, 29134959, 29284153, 29571998, 29885946, 29908090, 29912274, 30017832, 30446652, 30666215, 30941048, 31058838, 31421257, 31554640, 31739795		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20721741		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16269310, 16357163, 19057948, 21311890, 28259610		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28490466, 28802831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21311890, 29263244		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10551507, 10787193, 10882153, 11069217, 11344225, 11820615, 12240753, 15184868, 15693160, 15771616, 15785245, 15947100, 15982921, 16331264, 16490247, 16634961, 16778204, 16889486, 16940797, 17270245, 17270543, 17891236, 17891249, 17891251, 18502338, 19028457, 19147628, 19465682, 19487296, 19495791, 19785523, 20142332, 20738253, 21110809, 21142662, 21355020, 21878896, 21947652, 22136268, 22751117, 22887574, 22891351, 22961909, 23526464, 23744765, 23828865, 24296167, 24346100, 24811481, 24858900, 25244593, 25330015, 25333496, 25456951, 25627462, 25736215, 25789503, 25862858, 26191299, 26265449, 26354077, 26652860, 26722434, 27058903, 27207655, 27555670, 27712045, 28351223, 28795691, 28911727, 29134959, 29284153, 29436694, 29515777, 29584698, 29657135, 29908090, 30668525, 8806700, 9043870, 9794240, 9841749, 9917130		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10220148, 10458257, 10834397, 11061555, 11114633, 11114739, 11280716, 11331212, 11344225, 11443191, 11820615, 11835593, 12057919, 12150334, 12161537, 12670889, 12679489, 12720532, 12755957, 1351867, 1355790, 14561794, 15277225, 15297606, 15345114, 15883703, 15982921, 1620547, 16519882, 16849421, 16979782, 17047083, 17167516, 17270245, 17952863, 18090939, 18235983, 18307724, 18757433, 19027225, 19028457, 19887470, 20130073, 20201982, 20236688, 20713208, 20930041, 20946573, 21110809, 21173509, 21311890, 21737465, 22442268, 22751117, 22973956, 23461584, 23526464, 23652668, 23723040, 23837487, 24064755, 24132104, 24220341, 24559275, 24601688, 24705026, 24778213, 24794415, 25351743, 25436805, 26321248, 26572991, 26575174, 27062580, 27689252, 27802347, 27815117, 27872141, 28069693, 28092668, 28181547, 28215306, 28302441, 28489587, 28794017, 28857077, 28911727, 29175871, 29284153, 29319359, 29552294, 29571998, 29657135, 29683529, 29731874, 29743166, 29885946, 29912274, 29951718, 30210625, 30555244, 30666215, 31118272, 31821747, 7478601, 7563185, 7595167, 7784092, 7824936, 7881414, 7919923, 7922346, 8114939, 8570194, 8829625, 9035202, 9294615, 9620546, 9818027, 9848713, 9889797, 9950371		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22751117, 29665843, 30210625		★☆☆☆☆ Found in Text Mining only
Malignant tumor of small intestine	Small intestine cancer	BEFREE	28802831		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18483257		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26240273, 26686064		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	21267004		★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	BEFREE	16443855		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	15972446, 17662084	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	LHGDN	12182057, 17270543		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	14557476, 15271413, 16960675, 1701232, 25465739, 7913936		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	CTD_human_DG	7915165		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	10220148, 10367632, 10443680, 10458257, 10522989, 10622534, 10691056, 10731788, 10822229, 10832112, 10834397, 10871866, 10951350, 10980580, 11037345, 11038208, 11073534, 11116144, 11165748, 11194546, 11238493, 11241313, 11351254, 11376404, 11389085, 11429053, 11502806, 11589684, 11673360, 11692159, 11746981, 11753660, 11786689, 11820587, 11849247, 11900877, 11935126, 11939755, 11987030, 12016484, 12168961, 12205548, 12410354, 12474140, 12490846, 12519890, 12604374, 12679485, 12679489, 12686527, 12694233, 12711285, 12721726, 12727845, 12734540, 12746565, 12788868, 12869215, 12869284, 12872262, 12920219, 12946481, 1351867, 14500395, 14526122, 14555929, 14557476, 14561794, 14586073, 14602786, 14618242, 14628904, 14962731, 15129804, 15240641, 15251615, 15271413, 15277225, 15292360, 15316058, 15320968, 15331579, 15350625, 15355445, 15485908, 15516777, 15517481, 15517484, 15523405, 15531548, 15531714, 15588376, 15588382, 15640548, 15657578, 15693160, 15717653, 15741265, 15746253, 15776290, 15875728, 15883703, 15947103, 15991157, 16029119, 16053382, 16091499, 16162881, 16263812, 16343097, 16343103, 16384843, 16451770, 16487008, 16490247, 16519882, 16571096, 16707008, 16712668, 16732321, 16736292, 16756963, 16782438, 16813623, 16817830, 16865646, 16868135, 16954442, 16955009, 16960675, 17021738, 17037976, 17131411, 17185892, 17188172, 17270543, 17316110, 17384213, 17453286, 17639053, 17639056, 17656601, 17848262, 17895320, 17952863, 17963006, 18058472, 18073307, 18174722, 18248647, 18248648, 18282654, 18284634, 18299477, 18316595, 18322301, 18327036, 18365214, 18402529, 18445656, 18502331, 18502338, 18508109, 18756447, 18765511, 18771606, 18805915, 18976163, 18987170, 18991485, 19027225, 19041016, 19125012, 19138318, 19169500, 19226610, 19269918, 19383830, 19411807, 19443294, 19445625, 19468197, 19475497, 19484261, 19488601, 19638924, 19776290, 19823860, 19841562, 19887470, 19897677, 19906784, 19958926, 20013610, 20039896, 20063095, 20065189, 20103606, 20152359, 20368568, 20369307, 20463576, 20516206, 20521125, 20570039, 20704575, 20712590, 20713208, 20801952, 20943719, 21054478, 21110809, 21134561, 21150841, 21186952, 21228881, 21309721, 21325074, 21325462, 21422198, 21460789, 21479187, 21543427, 21688339, 21690267, 21711375, 21810974, 21834681, 21867742, 21986619, 22038905, 22111543, 22158037, 22170709, 22274720, 22312249, 22343387, 22345297, 22404432, 22584703, 22584707, 22584709, 22648435, 22676344, 22865907, 23042124, 23059849, 23180660, 23188542, 23231950, 23242522, 23259706, 23264394, 23295303, 23329180, 23331839, 23341727, 23391109, 23416954, 23455356, 23461584, 23461807, 23512389, 23526464, 23652676, 23676418, 23723040, 23744765, 23745650, 23756355, 23766359, 23780998, 23849459, 23934677, 24030942, 24064755, 24297798, 24357249, 24361808, 24449662, 24449826, 24483157, 24569963, 24601688, 24616415, 24617864, 24629865, 24662821, 24699996, 24716929, 24828033, 24845513, 24969991, 25231454, 25244593, 25319874, 25425582, 25435367, 25440022, 25456951, 25501606, 25546157, 25694125, 25725622, 25733075, 25824727, 25887804, 25931041, 25972318, 26033033, 26081844, 26247112, 26254625, 26285815, 26307103, 26479990, 26497911, 26678667, 26708403, 26718898, 26758973, 26765577, 26829565, 26837867, 26839093, 26868437, 26876062, 26945007, 26974132, 27083464, 27185870, 27207748, 27271930, 27306881, 27351133, 27379493, 27400880, 27409604, 27525386, 27535135, 27539727, 27610696, 27618325, 27635947, 27664392, 27683183, 27704398, 27792051, 27798940, 27807060, 27864651, 27935748, 28068878, 28089742, 28099363, 28122586, 28166591, 28181547, 28315378, 28498409, 28585679, 28605116, 28609830, 28639308, 28647780, 28698189, 28843253, 28883261, 28911154, 28925363, 28946813, 28952196, 29049491, 29133048, 29134313, 29142004, 29219214, 29284153, 29336779, 29341155, 29378479, 29408964, 29436694, 29484475, 29518763, 29549836, 29590403, 29657135, 29657136, 29663723, 29688429, 29779869, 29951718, 30049837, 30072953, 30135308, 30300539, 30321177, 30641519, 30644554, 30717909, 30763276, 30873628, 30884088, 30902456, 30927507, 31145454, 31252403, 31288802, 31297834, 31352037, 31408923, 31494787, 31510104, 31549322, 31658309, 7491519, 7491529, 7536460, 7595167, 7627269, 7638742, 7641404, 7670926, 7743500, 7864888, 7902324, 7906417, 7906866, 7907913, 7915822, 8093642, 8099202, 8556060, 8557249, 8616867, 8640806, 8695346, 8768845, 8797874, 8807338, 8829625, 8855832, 8918855, 9003111, 9046972, 9068588, 9167949, 9167953, 9191060, 9223675, 9247627, 9263528, 9288142, 9301617, 9329372, 9382998, 9398735, 9447290, 9516056, 9559344, 9587071, 9600247, 9621513, 9677065, 9681852, 9699127, 9700574, 9747064, 9777749, 9794240, 9824378, 9851769, 9868860, 9881906		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	CLINVAR_DG	10445857, 10490816, 11351254, 15184865, 15277225, 15753368, 17108110, 18073307, 20943719, 21422803, 23056499, 25157968, 8570194, 9012462, 9242375, 9839497		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	CTD_human_DG	7915165		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	CGI_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11106272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	19010823, 19561646, 19671763, 19847190, 22157936, 22189301, 23593420, 23617806, 25339196, 25769001, 27102439, 27689874, 33378376, 35798875, 35871080, 36251678, 37252843	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	20201982, 20422010, 20573279, 23109338, 23878221, 24858900, 25230579, 25769001, 26033450, 30940655, 31715421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19561646, 22189301, 35978072	Associate	★☆☆☆☆ Found in Text Mining only
Melanosis	Melanosis	BEFREE	19594765, 9989837		★☆☆☆☆ Found in Text Mining only
Melnick-Needles Syndrome	Melnick-Needles Syndrome	BEFREE	16839263		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	16077404, 22246193, 23361052	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	34769224	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	36597718	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23323969		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	31679193		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	20522586		★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	29049491	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	34858321	Associate	★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	16443855		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	11900218	Associate	★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	16405407, 20950609, 24559275, 29108474		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	10401675, 10445857, 10679286, 10728700, 10812967, 10878547, 11000521, 11061555, 11069217, 11360177, 11389085, 11747285, 11949835, 12205548, 12604374, 12690476, 12711285, 12734540, 14611677, 14739494, 15013219, 15116102, 15271413, 15472167, 15517481, 15588376, 15592804, 15717653, 15750914, 15875728, 15880310, 16299679, 16343103, 16481266, 16634961, 16782438, 16839264, 16954442, 17030811, 17108110, 17316110, 17895320, 17963006, 18174722, 18206480, 18365214, 18502338, 18936155, 19465682, 19801688, 19826964, 20039896, 20152359, 20211557, 20497437, 20554711, 20713208, 20721741, 21422799, 21490379, 21550946, 21857107, 22429913, 22584708, 22584710, 22734615, 22890595, 23211574, 23744408, 23933118, 26071011, 26184857, 26262510, 27083464, 27277749, 27704398, 27809725, 28122586, 28323957, 28613942, 28931560, 29020875, 29237911, 29779869, 7532281, 7563185, 7595170, 7627271, 7824936, 7845675, 7852530, 7881414, 7961113, 8621380, 8625130, 8632274, 8654369, 8663426, 8675603, 8732460, 8818661, 9068588, 9070340, 9090493, 9179691, 9238292, 9263528, 9288142, 9393766, 9516056, 9616736, 9621513, 9681850, 9681851, 9700574, 9727201, 9818022, 9881906		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	LHGDN	11949835, 12519890, 12959980, 15355438, 15988377, 17952863, 18063059, 18299477		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	CTD_human_DG	17664273		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	GENOMICS_ENGLAND_DG	23788249		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	CLINVAR_DG	10445857, 10490816, 15753368, 8570194, 9012462, 9242375		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	10915003, 15870131, 16299679, 20980721, 21678021, 22584700, 23652676, 23800691, 23933118, 26184857, 30641515		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	CLINVAR_DG	10024437, 10235148, 10445857, 10462620, 10549772, 10790203, 10876191, 10951350, 10982477, 11073534, 11114642, 11230481, 11238493, 11331212, 11502806, 11524247, 11694544, 11732489, 11900218, 11932300, 11935126, 11939755, 11987030, 12000816, 12016484, 12019403, 12116277, 12150334, 12193298, 12409662, 12490841, 12604374, 12686527, 12711285, 12734540, 12788868, 12864791, 14517954, 14561794, 14602786, 14715928, 14718397, 14739494, 15164440, 15184865, 15240641, 15277225, 15292360, 15452453, 15472167, 15523405, 15531714, 15699703, 15741265, 15753368, 15771139, 15844786, 15855933, 15858153, 16053382, 16314641, 16325365, 16343097, 16507829, 16565500, 16649977, 16707008, 16712668, 16715139, 16813623, 16865646, 16865647, 16868135, 16954442, 17021738, 17178962, 17188172, 17270543, 17316110, 17372903, 17466010, 17527003, 17704047, 17895320, 17898100, 18058472, 18062802, 18063059, 18206480, 18302097, 18631007, 18794325, 18805915, 18976013, 19029228, 19138318, 19201392, 19240193, 19258401, 19318731, 19336503, 19443294, 19445625, 19469690, 19472011, 19825962, 19853744, 19958926, 20039896, 20041006, 20063095, 2008030, 20103606, 20119574, 20152359, 20497437, 20516206, 20554711, 20739875, 20979234, 21054478, 21134561, 21449769, 21678021, 21688339, 21690267, 21711375, 21765987, 21810974, 21834681, 21986619, 22068382, 22403753, 22676047, 22734615, 22965292, 23295303, 23404858, 23461807, 23468374, 23617071, 23723040, 23744765, 23745650, 23756355, 23861463, 24152999, 24331334, 24361808, 24449023, 24569963, 24617864, 24684035, 24716929, 24784869, 24845513, 24972642, 25027091, 25143909, 25319874, 25379023, 25440022, 25501606, 25515555, 25628771, 25629635, 25694125, 25725622, 25759805, 25810047, 25887804, 26046350, 26230854, 26269449, 26356818, 26678667, 27207748, 27406704, 27539324, 27673361, 27698838, 27807060, 27847096, 28099363, 28946813, 29020875, 30300539, 30763276, 30927507, 7491519, 7595167, 7595171, 7608256, 7633441, 7670926, 7716719, 7784092, 7824936, 7835899, 7845675, 7849720, 7874109, 7881414, 7906417, 7907913, 7914213, 7915165, 7915822, 7916559, 8099202, 8103403, 8570194, 8612479, 8625130, 8626834, 8640806, 8675603, 8765374, 8797874, 8807338, 8849576, 8855832, 8909322, 8918855, 9003111, 9012462, 9068588, 9075701, 9090527, 9111992, 9111993, 9174404, 9223675, 9230192, 9242375, 9259198, 9384613, 9398735, 9452077, 9490783, 9498388, 9506724, 9677065, 9681851, 9681852, 9699127, 9745455, 9820617, 9839497, 9879991, 9950371		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	10220148, 10458257, 10539905, 10622534, 10768832, 10838497, 10878547, 10915003, 10915008, 11061555, 11073534, 11103773, 11114739, 11116144, 11182843, 11280716, 11386462, 11390647, 11429053, 11454140, 11494117, 11589684, 11753660, 11839664, 11845976, 11900218, 11935126, 11949835, 12000816, 12519890, 12679485, 12686527, 12788868, 12869215, 12872262, 14557473, 14765367, 15077909, 15135800, 15233556, 15240649, 15277225, 15292360, 15331579, 15531548, 15592530, 15606376, 15875728, 15883703, 15956201, 15965261, 15982921, 15991157, 16053382, 16091499, 16158949, 16343738, 16370559, 16519882, 16532227, 16705552, 16707008, 16712668, 16778204, 16817830, 16857415, 16979782, 17036197, 17047083, 17102076, 17102080, 17102083, 17105651, 17119341, 17121518, 17208566, 17213820, 17270543, 17551473, 17555548, 17898100, 18062802, 18090939, 18174721, 18209889, 18390809, 18499773, 18505076, 18794325, 19056041, 19177457, 19226610, 19269918, 19443294, 19488601, 19841562, 19906784, 20063095, 20080836, 20083156, 20087666, 20152359, 20373984, 20497437, 20516206, 20554711, 20570039, 20578898, 20627492, 20930041, 20946573, 20979234, 20980721, 21110809, 21309721, 21422799, 21479187, 21550946, 21551259, 21552134, 22199277, 22429592, 22584703, 22584709, 22584710, 22584711, 22890320, 23210566, 23455356, 23461807, 23723040, 23744408, 23756355, 23766359, 24030942, 24121387, 24152999, 24361808, 24601688, 24616415, 24662821, 24699901, 24969991, 24972642, 25231454, 25440022, 25733075, 26033033, 26247112, 26321248, 26457501, 26497911, 26765577, 26876062, 26884116, 26945007, 27034161, 28166591, 28605116, 28647780, 28931560, 28946813, 29049491, 29175871, 29237911, 29348306, 29348307, 29378479, 29396759, 29518763, 30763276, 31145454, 31619220, 7491519, 7491529, 7573303, 7595170, 7595173, 7913027, 8093642, 8556060, 8605678, 8612479, 8640806, 8675600, 8733882, 8776023, 8791480, 8810737, 8895732, 8901418, 8909322, 8918855, 8949970, 8964826, 9000574, 9046882, 9067749, 9111993, 9137984, 9150704, 9167949, 9167953, 9167962, 9179691, 9238292, 9259198, 9263528, 9284737, 9294615, 9301617, 9467562, 9559344, 9617347, 9703361, 9736899, 9820617		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	CLINVAR_DG	10049754, 10445857, 10490816, 10679286, 10826520, 10918602, 11230481, 11524247, 11739416, 11932300, 11939755, 12000816, 12016484, 12037758, 12050290, 12116277, 12746565, 14718397, 15184865, 15326638, 15386323, 15452453, 15753368, 15858153, 16099853, 16314641, 16343103, 16715139, 16813623, 16839264, 17209045, 18062802, 18063059, 18976013, 19443294, 19469690, 19475497, 19826964, 20039896, 20103606, 20554711, 20664475, 20979234, 21690267, 21711375, 21765987, 21810974, 21934104, 22068382, 22274720, 23295303, 23756355, 24134185, 24331334, 24449023, 24845513, 25440022, 25628771, 25810047, 26269449, 26356818, 26687385, 26732158, 26765577, 27673361, 27798940, 28946813, 29408964, 7608256, 7824936, 7860065, 7874109, 7907913, 7915165, 8557249, 8570194, 8626834, 8855832, 8909322, 8918855, 9012462, 9097963, 9146685, 9230192, 9242375, 9384613, 9398735, 9452064, 9452077, 9498388, 9506724, 9824583, 9950371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	10220148, 10323403, 10458257, 10522989, 10539905, 10549772, 10622534, 10768832, 10826520, 10865036, 10878547, 10915003, 10915008, 11037345, 11061555, 11073534, 11103773, 11114642, 11114739, 11182843, 11232007, 11280716, 11386462, 11390647, 11429053, 11454140, 11494117, 11585664, 11589684, 11753660, 11839664, 11845976, 11900218, 11935126, 11949835, 11956105, 11979448, 12000816, 12412776, 12490841, 12519890, 12606135, 12679485, 12686527, 12702567, 12711285, 12734540, 12746565, 12788868, 12864791, 12869215, 1346781, 1351868, 14557473, 14765367, 15013219, 15077909, 15164440, 15233556, 15240649, 15277225, 15292360, 15331579, 15345114, 15531548, 15592530, 15592804, 15606376, 15753368, 15875728, 15956201, 15982921, 16053382, 16091499, 16123037, 16158949, 16162881, 16343097, 16343738, 16424056, 16532227, 16705552, 16712668, 16732321, 16782438, 16817830, 1682518, 16839264, 16857415, 16979782, 1701232, 17036197, 17047083, 17102076, 17119341, 17121518, 17208566, 17213820, 17308850, 17316110, 17527003, 17551473, 17573899, 17704047, 17898100, 18090939, 18174721, 18209889, 18248647, 18390809, 18499773, 18505076, 18756447, 18794325, 18805915, 18845906, 19056041, 19169490, 19177457, 19226610, 19269918, 19340440, 19443294, 19472011, 19906784, 20063095, 20080836, 20083156, 20373984, 20497437, 20516206, 20554711, 20570039, 20627492, 20833339, 20946573, 20979234, 21309721, 21479187, 21550946, 21551259, 21552134, 21655256, 21834681, 22429592, 22429913, 22584703, 22584709, 22584710, 22584711, 22890320, 23210566, 23455356, 23461807, 23723040, 23744408, 23749818, 23756355, 24152999, 24449023, 24601688, 24643705, 24699901, 24969991, 25404689, 25440022, 25515555, 25624014, 25694125, 25733075, 26247112, 26254625, 26457501, 26497911, 26876062, 26884116, 26920351, 26945007, 27034161, 27277749, 27400880, 27704398, 27838608, 28099363, 28122586, 28166591, 28569245, 28605116, 28747092, 29049491, 29175871, 29237911, 29336779, 29408964, 29420094, 29518763, 29663723, 29779047, 31619220, 7491519, 7491529, 7536460, 7563486, 7573303, 7595167, 7595169, 7595170, 7595173, 7608256, 7638742, 7784092, 7829628, 7835899, 7845675, 7860065, 7864888, 7874109, 7902324, 7904208, 7904972, 7913027, 7913936, 7914213, 7915329, 7915822, 7916559, 7919923, 7943181, 7961113, 7985085, 7987299, 8093642, 8094268, 8099202, 8114939, 8556060, 8562477, 8570194, 8605678, 8612479, 8616867, 8625130, 8640806, 8675600, 8675603, 8678956, 8732448, 8733882, 8757765, 8772572, 8776023, 8783101, 8791480, 8810737, 8829625, 8895732, 8901418, 8909322, 8918855, 8949970, 8964826, 9000574, 9018112, 9046882, 9067749, 9068588, 9097963, 9111993, 9137984, 9146685, 9150704, 9160884, 9167949, 9167953, 9167962, 9174404, 9179691, 9223675, 9230192, 9238292, 9262059, 9263528, 9284737, 9294615, 9301617, 9382998, 9467562, 9478934, 9559344, 9617347, 9681852, 9703361, 9736899, 9795529, 9818022, 9820617, 9824583, 9950371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	UNIPROT_DG	10522989, 7860065, 7874109, 7881414, 7915165, 8099202, 8103403, 8626834, 8807338, 9097963, 9384613, 9452064		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	LHGDN	11839664, 11900218, 11935126, 11979448, 12466368, 12490841, 12788868, 15741265, 16525712, 16596053, 18794325, 18805915		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	CTD_human_DG	12864791, 7915165, 8099202		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	ORPHANET_DG	20833330		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple endocrine neoplasia type 2A	Multiple Endocrine Neoplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	GENOMICS_ENGLAND_DG	25162666		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	10023663, 10076558, 10220148, 10369718, 10575840, 10679286, 10871866, 11388386, 11788682, 11839664, 1351867, 15485908, 16808642, 17047083, 18258924, 18756447, 19029224, 19041016, 19226610, 21186952, 21253810, 22359510, 23468374, 23979292, 24931355, 26184857, 26708403, 27807060, 28925363, 29049491, 29077903, 29134313, 29142004, 29908090, 30113649, 7573303, 7596047, 7784092, 7906417, 7906866, 7987299, 8616867, 8621380, 8621456, 8625130, 8736281, 8895732, 9068588, 9167949, 9360560, 9447290, 9700574		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	CLINVAR_DG	10445857, 10490816, 10679286, 11230481, 12016484, 12116277, 15281979, 15753368, 17848262, 18976013, 19240193, 19443294, 19826964, 20664475, 20979234, 21186952, 21934104, 22992277, 28323957, 7824936, 7874109, 7906417, 7906866, 7915165, 8570194, 8880581, 8909322, 9012462, 9242375, 9294615, 9360560		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	LHGDN	17576593, 17599050		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	ORPHANET_DG	20833330		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple endocrine neoplasia type 2B	Multiple Endocrine Neoplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	GENOMICS_ENGLAND_DG	23788249, 25162666		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	UNIPROT_DG	7906417, 7906866, 7911697, 8595427, 8807338, 9294615, 9360560		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE	MULTIPLE ENDOCRINE NEOPLASIA, WITH HIRSCHSPRUNG DISEASE	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA	MULTIPLE ENDOCRINE NEOPLASIA, WITHOUT PHEOCHROMOCYTOMA	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Endocrine Neoplasia, Type IV	Multiple Endocrine Neoplasia	CLINVAR_DG	10445857, 10490816, 15753368, 8570194, 9012462, 9242375		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16166596	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26935956, 29262596		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	35241415	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28530521		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	9333021		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	24296167		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	25773866		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	11739186	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	22369086	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	24331334	Associate	★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	26595521		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	35394843	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10022819, 10197589, 10401675, 10426588, 10458257, 10522989, 10597232, 10822229, 10838497, 11037345, 11073534, 11134110, 11241313, 11279350, 11298625, 11318605, 11351254, 11404820, 11443191, 11589684, 11720878, 11742034, 11753660, 11821960, 11861385, 11883863, 11932334, 11950855, 12000816, 12057919, 12161537, 12192544, 12519890, 12604374, 12608895, 12679485, 12720532, 12767512, 12803011, 12811413, 12869215, 12915470, 12920219, 1350670, 1381340, 14500403, 14555660, 1457350, 14668719, 14739494, 15126554, 15150580, 15188460, 15203751, 15233556, 15256053, 15316058, 15375577, 15477708, 15502856, 15588246, 15650359, 15750914, 15753666, 15776290, 15841388, 15875728, 15876154, 15883703, 16091499, 16215979, 16384843, 16402937, 16405409, 16424056, 16483615, 16756963, 16772343, 16778204, 16849421, 16865646, 17102110, 17427103, 17464312, 17555548, 17639057, 17721188, 17916994, 18073307, 18089803, 18235983, 18317952, 18331611, 18363182, 18364248, 18393128, 18508109, 18726616, 18765511, 18936155, 18985036, 19015641, 19399650, 19494710, 19495791, 19551609, 19956182, 20001716, 20039896, 20087666, 20369307, 20422010, 20522586, 20531297, 20704575, 20738253, 20854070, 20878247, 20980721, 21173509, 21422198, 21552134, 21847121, 21865371, 21947652, 22038905, 22111543, 22183643, 22345297, 22404432, 22429592, 22558328, 22584700, 22648435, 22676344, 22751117, 23150706, 23342255, 23455356, 23512077, 23616356, 23652676, 23676418, 23685355, 23756355, 23885719, 24037524, 24096807, 24220341, 24315414, 24327398, 24361808, 24366639, 24418728, 24504365, 24526731, 24560444, 24569963, 24629636, 24702198, 24754736, 24759995, 24798740, 24810493, 24811913, 24973511, 25122427, 25137025, 25163725, 25175022, 25230579, 25234288, 25303898, 25349307, 25404689, 2565874, 25769001, 25773866, 25803323, 25881079, 2594368, 25975578, 26033033, 26033450, 26184857, 26321248, 26363542, 26469915, 26536165, 26620497, 26686064, 26773571, 26832794, 26884116, 26935956, 27090738, 27105531, 27259715, 27306766, 27351133, 27402614, 27409604, 27494860, 27496134, 27539727, 27602955, 27610696, 27623068, 27821131, 27825636, 27849443, 27872141, 27935748, 27992500, 28068878, 28082048, 28099363, 28181547, 28257124, 28315434, 28460442, 28490466, 28498409, 28550398, 28615362, 28652169, 28751462, 28911154, 28931560, 29045520, 29134959, 29142004, 29142006, 29200967, 29263244, 29284153, 29368294, 29427052, 29434222, 29435461, 29473341, 29518763, 29538669, 29582677, 29657135, 29695833, 29743166, 29768105, 29860229, 29886801, 29912274, 29923169, 29961873, 30026381, 30045065, 30084677, 30130630, 30210625, 30413658, 30429449, 30446652, 30481748, 30528315, 30552739, 30641519, 30659000, 30666215, 30763276, 30851890, 30938880, 31042674, 31219820, 31288802, 31320002, 31327063, 31409511, 31425920, 31496725, 31540894, 31558784, 31568500, 31686157, 31695609, 31715421, 7536460, 7563185, 7573303, 7585643, 7596047, 7608256, 7743500, 7867726, 7903311, 7919923, 7943181, 7961113, 7987299, 8103403, 8187085, 8290261, 8545102, 8562477, 8592333, 8608782, 8612479, 8626835, 8626874, 8635999, 8658145, 8695346, 8733882, 8784097, 8786083, 8804229, 8855832, 8895732, 9052406, 9140104, 9192845, 9315093, 9329372, 9393766, 9466701, 9509062, 9516913, 9516975, 9621513, 9669285, 9768676, 9811335, 9818022, 9824583, 9851769, 9889797, 9989837		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10049754, 10445857, 11149622, 11395220, 11688458, 12000816, 12193298, 12409662, 12490841, 12686527, 15744028, 15858153, 16532227, 16712668, 16839264, 16865646, 17895320, 18058472, 18062802, 18063059, 18206480, 19177457, 19336503, 19469690, 19731974, 20087666, 20103606, 20119574, 20152359, 20979234, 21254918, 21479187, 21678021, 21688339, 21690267, 21711375, 21765987, 21810974, 21986619, 22068382, 22270996, 22274720, 22403753, 22965292, 23210566, 23407919, 23468374, 23617071, 23756355, 24336963, 24361808, 24561444, 24784869, 24845513, 25319874, 25501606, 25515555, 25628771, 25637381, 25694125, 25810047, 26247112, 26269449, 26687385, 27099842, 27539324, 27673361, 27809725, 27994876, 28099363, 28469506, 29656518, 7608256, 7784092, 7824936, 7849720, 7874109, 7881414, 7907913, 8557249, 8807338, 8918855, 9067749, 9068588, 9146685, 9174404, 9242375, 9384613, 9398735, 9452077, 9506724, 9839497		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	11114739, 11116144, 11753660, 11845976, 1355790, 15592530, 16424056, 16707008, 17213820, 17916994, 19226610, 21422799, 29197744, 29743166, 7716719, 8901418, 9047383, 9111993, 9284737, 9498388, 9559344		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10749116, 18090939, 28326956		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	LHGDN	18090939		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	14523991		★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	BEFREE	16979782, 17102089		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	8912182		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10811228, 11973622, 12358785, 1350670, 1437145, 16343103, 1694838, 17431108, 19320641, 2000222, 20952403, 20977903, 2181380, 2216455, 22429913, 24349301, 24399074, 24794774, 24811913, 25805801, 28791558, 29262623, 29321660, 29436676, 31695841, 7478523, 7685595, 7867726, 8514446, 8562477, 8758905, 8786083, 9393766, 9426223, 9516825, 9727201, 9840920		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	1694838, 17388787, 19320641, 20952403, 20957039, 24349301, 27732954, 32336043, 34115544, 35887076, 37664946, 37948459, 9426223	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	17388787		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	12865274, 15013219, 17036197, 19411807, 19887470, 23707781, 26718898, 28059096, 31715421, 8964826, 9284737, 9559344		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	12419172, 24735130		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	12111639, 12419172, 15051000, 16215979, 17119341, 17121518, 19336503, 20236688, 20980436, 21422080, 22836345, 24361808, 24735130, 26230854		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	37717273	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	18650488, 31219820	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30173779		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	29104107		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	39497173	Associate	★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	15203751, 22170709, 27802347		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	12914250		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20530713, 22797671, 23150706, 23342255, 23378251, 23533264, 23814043, 23877438, 23891510, 23991695, 24133367, 24418728, 24504365, 25122427, 25349307, 25384172, 25773866, 25881079, 25905642, 25975578, 25982012, 26187428, 26520640, 26762747, 26898613, 26973202, 27150058, 27494860, 27635639, 27794403, 27803005, 27825616, 27825636, 28073897, 28415793, 28447912, 28500237, 28560674, 28639308, 28881815, 29088743, 29128428, 29263244, 29284153, 29473341, 29571998, 29657135, 29885946, 29908090, 30429449, 30528315, 30653139, 30718102, 30962732, 31058838, 31226468, 31406302, 31425920, 31576143, 31710864, 31715421, 31769228		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	29443014, 30045065, 30130630, 31162284		★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	BEFREE	10372725, 11746981		★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	CTD_human_DG	28030816		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	24560444	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21947652, 27602955, 29608602, 30621641		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous dysplasia	Pubtator	26637977	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30481748, 31534554		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30742741	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15472167		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20721741		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21541037, 24937695, 28728166, 32374631, 33560870	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16269310, 16357163, 19057948, 20068194, 21311890, 28259610		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	16357163		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16357163, 18652760		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18310076, 18381409, 18652760, 22189301, 22275185, 22958871, 31558784, 34839264, 35949061	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10074915, 10083732, 10337992, 10439047, 10443680, 10646664, 10646882, 10656692, 10675479, 10690905, 10697956, 10741739, 10773666, 10822229, 10910073, 10931090, 10934169, 10980597, 11021799, 11114633, 11114739, 11117782, 11156407, 11165748, 11216646, 11279350, 11298625, 11314023, 11318605, 11389034, 11390647, 11443191, 11463498, 11544105, 11579677, 11585664, 11678839, 11707626, 11720878, 11742034, 11746981, 11747322, 11756755, 11783847, 11786418, 11849247, 11889175, 11950855, 12161537, 12193298, 12203787, 12383219, 12410354, 12444552, 12457448, 12534735, 12548161, 12605035, 12608895, 12665647, 12665650, 12670889, 12679489, 12720532, 12787916, 12869215, 12881714, 12907632, 12963982, 1437145, 14555660, 1457350, 14586073, 14668719, 14712216, 14981541, 14996725, 15013219, 15126554, 15126572, 15170542, 15184868, 15273715, 15277225, 15331579, 15356020, 15356021, 15356022, 15368067, 1542652, 15472223, 15502856, 15650359, 15671773, 15687339, 15693160, 15753666, 15761501, 15763659, 15771616, 15785245, 15859312, 15876154, 15947100, 15947103, 15968271, 15994200, 16015630, 16028414, 16181240, 16203990, 1620547, 16256137, 16402937, 16483615, 16487015, 16490247, 16551863, 16595592, 16641909, 16889486, 17036197, 17062879, 17131411, 1717926, 17186541, 17210721, 17210745, 17220349, 17222251, 17270245, 1745982, 17464312, 17555548, 17639057, 17655865, 17721188, 17727338, 17786355, 17891237, 17900235, 17916994, 17954023, 17954268, 18055323, 18226854, 18235983, 18261626, 18381570, 18393128, 18406659, 18408749, 18474871, 18509003, 18676765, 18948674, 19060924, 19107227, 19208736, 19223551, 19411807, 19487296, 19494710, 19495791, 19543246, 19903742, 19956182, 19958926, 20001715, 2000227, 20012784, 20101222, 20230995, 20369307, 20424115, 20447069, 20459574, 20463576, 20470206, 20564403, 20578891, 20587665, 20615140, 20640859, 20652698, 20738253, 20818435, 20839015, 20924280, 20950194, 20950609, 20951315, 21110809, 21134561, 21173509, 21339735, 21411301, 21498916, 21537871, 21561161, 21626080, 21725210, 21750045, 21798995, 21947652, 22150560, 22457234, 22558328, 22605559, 22682753, 22690899, 22745248, 22891351, 22961909, 23025542, 23050789, 23128507, 23145146, 2334411, 23436219, 23461584, 23559083, 23722226, 23744765, 23806056, 23885719, 23966419, 24014739, 24248188, 24327398, 24423287, 24510380, 24702198, 24722152, 24759995, 24798740, 24810336, 24858900, 24862939, 24957039, 2516841, 25175022, 25330015, 25407564, 25427145, 25456951, 25698220, 25731779, 25736215, 25789503, 25803323, 2594368, 26231782, 26258321, 26338373, 26472164, 26510840, 26649796, 26680454, 26784937, 26823860, 26825960, 26868437, 26918339, 27314298, 27314338, 27574129, 27618325, 27732329, 27793009, 27802347, 27872141, 27997908, 28069693, 28181547, 28219937, 28314770, 28374549, 28417935, 28534687, 28558632, 28673327, 28740507, 28816539, 28910386, 28920749, 29117154, 29144541, 29214440, 29284153, 29349484, 29427554, 29436694, 29489673, 29498921, 29560564, 29584698, 29657135, 30084677, 30254191, 30289307, 30429449, 30466862, 30472213, 30560718, 30648353, 30659000, 31085772, 31230400, 31288802, 31327063, 31425920, 31461359, 31715421, 7478601, 7491517, 7519046, 7529046, 7585643, 7753554, 8187085, 8275421, 8290261, 8545102, 8570194, 8579892, 8626874, 8634704, 8689603, 8780751, 8784097, 8806699, 8818661, 8901418, 9035202, 9067436, 9192845, 9247627, 9300200, 9333021, 9354893, 9438393, 9466701, 9482114, 9508203, 9516913, 9528832, 9589668, 9635675, 9669285, 9768676, 9811335, 9814501, 9881906, 9889797		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	ORPHANET_DG	17891228, 25407564		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	CTD_human_DG	28030816		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	10878547, 10998441, 15875728, 16388093, 17102080, 17102083, 17102089, 17119341, 19393419, 20236688, 20505258, 20923864, 20980436, 21784903, 22183643, 22541004, 22584701, 23512077, 23707781, 24466223, 24623741, 26267327, 26839173, 27774766, 28231563, 28332883, 28432847, 31734934		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	LHGDN	19145771		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	20205103, 20505258, 20842377, 20980436, 22270996, 24466223, 28122379, 28162975, 37717273	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	BEFREE	19906784		★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic Syndromes	BEFREE	29446856		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	15875728, 8976870		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	23616356, 28099363, 28881068		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	BEFREE	10915003, 16707008		★☆☆☆☆ Found in Text Mining only
Parathyroid hyperplasia	Parathyroid hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	10915003, 11706744, 12412775, 8616528, 8675600, 8976870, 8981014, 9736899		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	28099363, 36808802	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10811228, 17065462, 18436345, 20350599, 20442138, 21111805, 28840516, 28880247, 29504058, 31840869		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21111805, 33552685	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33935108	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28730349		★☆☆☆☆ Found in Text Mining only
Paroxysmal hypertension	Paroxysmal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	11788678		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30515799		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	9853108		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	17527003, 34741450	Associate	★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	12914250		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	11778984		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	10426588, 10458257, 10487688, 10522989, 10526879, 10691056, 10728700, 10731788, 10838497, 10953992, 10998441, 11103773, 11134110, 11182843, 11280716, 11404820, 11753660, 11821960, 12000816, 12150334, 12187076, 12381538, 12419172, 12686527, 12864791, 12928344, 1350670, 1353939, 14500403, 14557473, 14974911, 15233556, 15292360, 15592804, 15630638, 15883705, 16098468, 16343103, 16388093, 16525712, 16728571, 1701232, 17102076, 17102077, 17102081, 17102082, 17102083, 17102093, 17102110, 17119341, 17188172, 17466010, 17525480, 17527003, 17898100, 18063059, 18307724, 18726616, 18805915, 18936155, 19399650, 19475497, 19551609, 20039896, 20080836, 20236688, 20923864, 21784903, 21834681, 21896620, 22183643, 22274720, 22573489, 22584703, 22751117, 22846739, 23210566, 23416954, 23652668, 23652676, 24030942, 24361808, 24375508, 24449023, 24616415, 24623741, 25425582, 25694125, 26071011, 26457501, 26497911, 26708403, 26765577, 26884116, 27807060, 28099363, 28455835, 28569245, 28605116, 28698189, 28747092, 28925363, 28946813, 29159601, 29217652, 29408964, 29518759, 29779869, 30049837, 30072953, 30113649, 30300539, 31278686, 7478523, 7563486, 7595167, 7608256, 7616358, 7627269, 7627271, 7852530, 7913936, 7943181, 8099202, 8556060, 8561803, 8570194, 8592333, 8732460, 8768845, 8804229, 8810737, 8912182, 8964826, 8976870, 9018112, 9146685, 9167962, 9179691, 9215674, 9294615, 9467562, 9478934, 9502784, 9559344, 9879991		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	Pubtator	10539905, 11404820, 12000816, 1362408, 15858153, 16098460, 17527003, 17704047, 17898100, 19763184, 19906784, 20205103, 20505258, 20842377, 20980436, 21655256, 22270996, 22573489, 22751117, 23868299, 24030942, 24152999, 24331334, 24449023, 24466223, 24684035, 24694336, 24925884, 25494863, 26457501, 26497911, 26732158, 26960314, 27838608, 27992508, 28099363, 28925363, 29159601, 29779047, 30113649, 32219805, 32571297, 33268590, 33397040, 33827484, 33947839, 34234737, 34905813, 34925234, 35627249, 35858593, 35978072, 37335636, 38027168, 40235160, 7627269, 7627271, 7943181, 8556060, 8732448, 8835594, 9703361	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	UNIPROT_DG	12000816		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	CTD_human_DG	12000816		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	LHGDN	12187076, 12466368, 16314641, 16388093, 17527003, 18063059		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma	Pheochromocytoma	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG	12000816		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	BEFREE	17102093		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	7802041		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	25137025		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	28433712	Associate	★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	25854853		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	24315414		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28490466, 28802831		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22410775, 23251544, 25575823, 30859654	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30666215		★☆☆☆☆ Found in Text Mining only
Psammomatous Meningioma	Psammomatous Meningioma	BEFREE	25436805		★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	10526879	Associate	★☆☆☆☆ Found in Text Mining only
Pulsatile Tinnitus	Pulsatile Tinnitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	BEFREE	22169991		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	7867726		★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	11316186, 18252215, 21490379, 24152999		★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal agenesis, bilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal agenesis, unilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31043488		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	12606135		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	12606135		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	27329764		★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 3	Retinitis Pigmentosa	BEFREE	24759995		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	9368503		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	15737050	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	29445192, 32532875	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	32532875	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	7867726		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	30610524, 31502214, 33135196, 33991527, 34597458	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20564403, 26295973, 28423517, 28676824, 29517103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	28377632, 35074756, 35978072, 36469155, 37121144	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwannomatosis	Schwannomatosis	Pubtator	32017710	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	28889339		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	24315414		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26078337, 29538669		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	20201982		★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	22729463, 27717313	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	22038905		★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	7815416	Associate	★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sirenomelia	Sirenomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	20573279		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12767512, 25122427, 31715421, 8635999, 9559344		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	25122427, 26802149, 38057798, 38233864, 8635999	Associate	★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	28802831		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29200967, 9140104		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27681865, 27889930, 35978072	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	24158231, 26973202		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28215306		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27090738		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	12914250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	12914250		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21311890, 29263244		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18837080, 27765925, 27779515, 29325228, 34710947	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	10076558, 10076727, 10484798, 10539905, 10622534, 10947080, 11429053, 11442663, 11762820, 11900218, 12042015, 12214285, 12409662, 12474140, 12755957, 1362408, 15516777, 15572361, 15858153, 16707008, 16782438, 17527003, 17623957, 18515739, 18751369, 18765511, 18976013, 19034701, 19401695, 19445625, 19488601, 19841562, 19887470, 19897677, 19903778, 20063095, 20065189, 20368568, 20516206, 20664475, 20672905, 21186952, 21543427, 22162469, 22189301, 22648435, 22676344, 22747440, 22865907, 23158190, 23188542, 23201134, 23259706, 23264394, 23341727, 23563004, 23645647, 23685355, 23766359, 24152999, 24331334, 24449023, 24617864, 24684035, 24716929, 24805091, 24882762, 24993783, 25319874, 25425582, 25546157, 25694125, 25795775, 25931041, 26065416, 26295973, 26307103, 26356818, 26366543, 26497911, 26732158, 26758973, 26829565, 27207748, 27610696, 27620278, 27673361, 27841128, 27847096, 28099363, 28122586, 28181547, 28209747, 28276221, 28609830, 28647780, 28755389, 28760150, 28883010, 28911154, 28925363, 29049491, 29066476, 29396759, 29518763, 29590403, 29745123, 29901149, 29912274, 30135308, 30321177, 30552230, 30624503, 30660595, 30936199, 31062739, 31288802, 31510104, 31549322, 31988000, 32132976, 32219805, 32408902, 32421817, 32458635, 32702947, 32948239, 33097651, 33161056, 33268590, 33361738, 33383911, 33402557, 33525725, 33827484, 33938650, 34680178, 34769224, 34905813, 34925234, 35412008, 35627249, 35894740, 36456885, 36602781, 36749615, 37842841, 38027168, 38132167, 38260132, 38270925, 39285761, 39716145, 39842635, 39963061, 7627269, 7906417, 7915822, 7961113, 8093642, 8556059, 8556060, 8695346, 8732460, 8829625, 9263528, 9447290, 9617347, 9681852, 9818022, 9881906	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11389034, 11390647, 11742034, 11747322, 11950855, 12937150, 15119004, 1542652, 15502856, 1569189, 15716612, 15812549, 15968271, 16015630, 16203990, 16365291, 16641909, 16896265, 17156473, 17227125, 17464312, 17727338, 1823030, 18474871, 18498667, 18505566, 18948674, 19223551, 19500021, 20101222, 21103616, 21173509, 21498916, 21947652, 22457234, 22605559, 22682753, 23025542, 23050789, 23436219, 24327398, 24423287, 24510380, 24798740, 24810336, 24957039, 2516841, 25330015, 25803323, 26258321, 26649796, 26680454, 26784937, 26823860, 27058903, 27314298, 27802347, 28052655, 28069693, 28181547, 28209747, 28417935, 28507274, 28609009, 29108474, 29117154, 29214440, 29610391, 30254191, 30429449, 30467698, 30659000, 30903583, 31062739, 31168201, 31288802, 32187423, 32345963, 32767330, 33382403, 34024902, 34232984, 34237031, 34329840, 34565758, 35269445, 35397361, 36605945, 36973752, 37081420, 37124750, 37146205, 37188126, 37236546, 37882481, 38044137, 38472412, 40269951, 40338900, 8353035, 8761374, 9528832, 9881906, 9916927	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17210721, 19995698	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	27207655, 29731874, 30902456		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10074915, 10551507, 10597232, 10622534, 10675479, 10787193, 10812967, 10822229, 10865036, 10882153, 11061555, 11069217, 11165748, 11344225, 11351254, 11390647, 11429053, 11444172, 11820615, 11883863, 12240753, 12943231, 1350670, 15126554, 15184868, 15316058, 15368067, 15375577, 15579915, 15588381, 15687339, 15693160, 15771616, 15785245, 15947100, 15982921, 16331264, 16469774, 16490247, 16634961, 16756963, 16778204, 16889486, 16940797, 1717926, 17270245, 17270543, 17483988, 17655865, 17891236, 17891249, 17891251, 18088233, 18282654, 18437172, 18502338, 18676765, 18756447, 19028457, 19029224, 19147628, 19401695, 19465682, 19487296, 19495791, 19785523, 19878585, 20142332, 20738253, 20840674, 21110809, 21142662, 21325462, 21355020, 21810974, 21857107, 21878896, 21947652, 22136268, 22584703, 22751117, 22865907, 22887574, 22891351, 22961909, 23414134, 23526464, 23685355, 23744765, 23746767, 23828865, 24296167, 24346100, 24569963, 24811481, 24858900, 25064355, 25244593, 25330015, 25333496, 25456951, 25500544, 25627462, 25736215, 25789503, 25862858, 26191299, 26265449, 26354077, 26652860, 26722434, 26868437, 27058903, 27207655, 27402614, 27555670, 27646564, 27712045, 27872141, 27960236, 27994058, 28013235, 28351223, 28795691, 28911147, 28911727, 29046324, 29134959, 29284153, 29436694, 29515777, 29584698, 29657135, 29908090, 30668525, 31278686, 31578590, 7559902, 7563185, 7581978, 7585643, 7627269, 7864888, 8290261, 8353035, 8625130, 8630516, 8784097, 8806700, 8964826, 9043870, 9300200, 9443391, 9482114, 9516913, 9607728, 9617347, 9621513, 9794240, 9818022, 9841749, 9917130		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CLINVAR_DG	11389085, 16778204, 23416954		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	16940797		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899, 26680454, 27841128, 28209747, 28489587, 29615459, 32292131, 34972706, 38044137	Associate	★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	10022819, 10367632, 10426588, 10445857, 10822219, 11038208, 11241313, 11360200, 11429053, 11502806, 11589684, 12410354, 12474140, 12490080, 14618242, 15240649, 15630638, 16091499, 16230779, 16424056, 16487008, 16571096, 16646689, 16712668, 18282654, 18316595, 18331611, 18765511, 20521125, 20801952, 21422198, 21867742, 22038905, 22345297, 22747440, 23295303, 24828033, 25931041, 26837867, 27847096, 29615431, 30321177, 7536460, 7627269, 7641404, 7845675, 7906866, 8556059, 8729519, 8733882, 8768845, 8855832, 8917360, 9150704, 9160884, 9191060, 9223675, 9447290, 9617347, 9747064, 9824378, 9851769		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Diseases	Thyroid Diseases	BEFREE	20950609, 21750045, 23455356, 25736215, 9508203		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	21048359, 29131865	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	10686949, 12608895, 15356021, 1717926, 20130073, 22961909, 28261999		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	16940797		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Oncocytic Adenoma	Thyroid Gland Oncocytic Adenoma	BEFREE	28261999		★☆☆☆☆ Found in Text Mining only
Thyroid Hurthle Cell Carcinoma	Thyroid Carcinoma	BEFREE	26354077		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10084577, 10551507, 10882153, 11069217, 11117781, 11255259, 11344225, 11443191, 11788678, 11820615, 12085189, 12114746, 12240753, 12444552, 12652644, 12869215, 12943231, 1381340, 14668719, 15126554, 15368067, 15693160, 15771616, 15947100, 15982921, 16015630, 16203990, 16331264, 16490247, 16634961, 16641909, 16778204, 16843637, 16889486, 16940797, 17270245, 17270543, 17420723, 17655865, 17891236, 17891249, 17891251, 18502338, 19028457, 19147628, 19465682, 19487296, 19495791, 19766698, 19785523, 19910897, 20013610, 20142332, 20738253, 21110809, 21142662, 21355020, 21878896, 21947652, 22136268, 22584703, 22751117, 22887574, 22891351, 22961909, 23145146, 23295303, 23526464, 23744765, 24296167, 24346100, 24794415, 24811481, 25244593, 25330015, 25333496, 25456951, 25627462, 25736215, 25789503, 26191299, 26265449, 26354077, 26652860, 26722434, 26960768, 27058903, 27207655, 27555670, 27712045, 28795691, 28911727, 29436694, 29584698, 29657135, 29908090, 30668525, 30909182, 8275421, 8353035, 8545102, 8806700, 8901418, 8917360, 9043870, 9160884, 9315093, 9354427, 9466701, 9516913, 9516975, 9703361, 9794240, 9814501, 9824378, 9841749, 9861322		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	11692159, 11746981, 11883863, 11927965, 11932300, 12161537, 12182058, 12193298, 12474140, 12519890, 12670889, 12841548, 12884527, 14557473, 14586073, 15142370, 15240649, 15273715, 15277225, 15316058, 15523405, 15657578, 15716612, 15741265, 15753666, 15785245, 15844786, 15988377, 16007166, 16053382, 16230779, 16384843, 16419493, 16483615, 16596053, 16954442, 17185892, 17270245, 17464312, 17623957, 17727338, 17895320, 17900235, 17952863, 17954268, 18058472, 18226854, 18316595, 18316596, 18631007, 18756447, 18765511		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	16940797		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CLINVAR_DG	18541894, 19255327, 20065189, 20368568, 20847059, 21455200, 21470995, 22025146, 23056499, 9681850		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	11390647, 12085189, 1381340, 1569189, 15812549, 17065770, 18156210, 19138047, 19878585, 20237991, 21289267, 21947652, 22751117, 22887574, 22928011, 23414134, 23436219, 23629654, 23979959, 24248188, 24346100, 24510380, 25330015, 25500544, 25576899, 26065416, 26191299, 26258321, 26259532, 26695504, 26960768, 27058903, 27264674, 27555670, 27717198, 27802347, 28013235, 28069693, 29131865, 29908090, 30467698, 30867499, 31115496, 31578590, 31937902, 32390600, 32737449, 32781560, 32823007, 33161056, 34009369, 34024902, 34237031, 34366324, 34710947, 34972706, 35015563, 35255601, 35269445, 35647935, 35871080, 35978072, 35985422, 36142729, 37081420, 37081757, 37506147, 37622214, 37779428, 37882481, 38165228, 38277563, 38472412, 38642578, 40743555, 8353035, 9703361, 9916927	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	28225863	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	11443191, 12057919, 16028414, 17381488, 17727338, 19138047, 21048359, 21173509, 21411555, 21750045, 22770943, 23722226, 24074409, 25333496, 28537891, 28616727, 31461359, 9329372		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	16595592, 20447069		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	18505566, 20703476, 22682753, 27717198, 29469940, 33272981	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	11747322, 18505566	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	16405408		★☆☆☆☆ Found in Text Mining only
Total intestinal aganglionosis	Total Intestinal Aganglionosis	BEFREE	10946353, 11316186, 12632375, 16632597, 18280283, 23114404, 9094027		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	10083732		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	12632375		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	12632375		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10367623, 14628904, 17097365, 28747092, 8605678, 9167953, 9255265		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26686064, 30189722		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30189722, 38172210	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	15875728		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	9703361		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	12608895, 15368067, 18498667, 20840674		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	ORPHANET_DG	21900877, 24429398		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	BEFREE	24152999		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	10915003		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24325461, 25405368, 25500544, 28075465, 32989154, 36142729	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	9600247		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	40743555	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	26575174		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	LHGDN	18273880		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	9600247		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	9600247		★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	BEFREE	23053599		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	10487688, 11134110, 11494117, 12000816, 12111639, 12352391, 15051000, 15531530, 15640547, 17102080, 17121518, 19906784, 22836345, 22846739, 7563486, 8592333, 8804229, 8825918, 9215674, 9509062		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	7643365	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	7802041		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	7643365, 7802041, 8877363		★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	7643365		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	34311961	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	7643365	Associate	★☆☆☆☆ Found in Text Mining only