CDKN2A (cyclin dependent kinase inhibitor 2A)

Gene

• Entrez ID: 1029
• Gene name: Cyclin dependent kinase inhibitor 2A
• Gene symbol: CDKN2A
• Synonyms (NCBI Gene): ARF, CAI2, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16
• Chromosome: 9
• Chromosome location: 9p21.3
• Summary: This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibito

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800586	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, uncertain-significance	5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs4987127	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs6413463	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs6413464	C>A,G	Likely-pathogenic, benign-likely-benign, uncertain-significance, benign	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs11552822	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs11552823	G>A,C	Pathogenic, uncertain-significance	3 prime UTR variant, missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs34170727	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs34968276	G>A,C,T	Likely-pathogenic, likely-benign, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained, 3 prime UTR variant, synonymous variant
rs36204594	G>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, synonymous variant
rs45456595	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs45476696	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained, 3 prime UTR variant
rs104894094	C>A,G,T	Risk-factor, pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894095	C>G,T	Likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894097	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance, risk-factor, pathogenic-likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs104894098	A>T	Risk-factor, pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894099	A>C,T	Risk-factor, likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894104	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs104894109	C>A,T	Likely-pathogenic, risk-factor, pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs113798404	C>G,T	Risk-factor	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121913381	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121913382	C>A,T	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913383	C>A	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913384	C>A,G,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913385	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs121913386	G>A,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs121913387	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913388	G>A,C	Risk-factor, likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs121913389	C>T	Likely-pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs137854597	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs137854599	C>G,T	Conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs141798398	G>A,T	Uncertain-significance, pathogenic	Intron variant, genic upstream transcript variant, stop gained, missense variant, non coding transcript variant, coding sequence variant
rs146179135	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs199888003	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, synonymous variant, missense variant
rs199907548	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs200863613	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs370823171	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs372266620	G>A,C,T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs372670098	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs387906410	GC>AG	Risk-factor, pathogenic	Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs398123152	->C	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs529380972	C>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs559848002	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant, synonymous variant
rs575031539	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs587776716	CGGGTCGGGTGAGAGTGGC>-	Risk-factor, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs587778189	T>A,C,G	Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs587780668	GGCTCCATGCTGCTCCCCGCCGCC>-,GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic, risk-factor	5 prime UTR variant, upstream transcript variant, initiator codon variant, non coding transcript variant, inframe deletion, genic upstream transcript variant, inframe insertion, intron variant
rs587782206	CCAG>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs587782792	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, synonymous variant, 3 prime UTR variant, coding sequence variant
rs730881672	->GCC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, inframe insertion, coding sequence variant, intron variant
rs730881673	->T,TT	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, stop gained
rs730881674	GTGAGAGTGGCGGGGTCGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs730881675	TCGTGCACGGGTCG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs730881677	C>A,G,T	Not-provided, pathogenic	Splice acceptor variant
rs746834149	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant
rs749714198	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs754806883	C>A,G,T	Uncertain-significance, likely-pathogenic	Missense variant, 3 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756750256	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, 3 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs762397298	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs768966657	->ACG	Pathogenic, likely-pathogenic	3 prime UTR variant, coding sequence variant, inframe insertion, non coding transcript variant
rs771138120	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs786204195	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs864622263	A>C,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs864622636	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs876658220	T>-	Likely-pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs876658511	TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs876658534	GC>AA	Likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs876658556	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained, intron variant
rs876660436	G>A,C,T	Likely-pathogenic, pathogenic	3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs878853644	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, splice donor variant, frameshift variant, intron variant
rs878853647	C>G,T	Pathogenic	Synonymous variant, 3 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs878853650	A>G	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, intron variant
rs886041162	GC>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1057519852	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1057519881	T>C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1057519882	C>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519883	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1060501260	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1060501263	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1060501265	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, splice donor variant
rs1060501266	T>C	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, intron variant, 3 prime UTR variant
rs1060504181	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, 3 prime UTR variant
rs1064794292	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691186	C>A,G,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691187	G>-	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, stop gained, non coding transcript variant
rs1131691188	->C	Pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1554653915	GCGCAGGTACCGT>CGCATC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554653956	CCAGGTCCACGGGCAG>-	Likely-pathogenic	Terminator codon variant, non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554653976	->GGGC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554654052	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1554654224	T>C,G	Not-provided, likely-pathogenic	Splice acceptor variant
rs1554656253	G>A,C,T	Likely-benign, pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant, intron variant
rs1554656411	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, intron variant
rs1554656624	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant
rs1563888944	->TC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1563889584	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1563889847	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1563892715	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant
rs1587330284	AGTCCTCACC>-	Likely-pathogenic	3 prime UTR variant, intron variant, coding sequence variant, splice donor variant, non coding transcript variant
rs1587332314	A>G	Likely-pathogenic	3 prime UTR variant, synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs1587332338	C>-	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587340291	AGT>C	Pathogenic	Intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004362	hsa-miR-24-3p	qRT-PCR, Western blot	18365017
MIRT004362	hsa-miR-24-3p	qRT-PCR, Western blot	18365017
MIRT004489	hsa-let-7g-5p	qRT-PCR, Luciferase reporter assay, Western blot	20309945
MIRT004709	hsa-miR-125b-5p	Western blot	20347935
MIRT006071	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006368	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21471404
MIRT006071	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006368	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21471404
MIRT006071	hsa-miR-492	Microarray, qRT-PCR	21319197
MIRT006368	hsa-miR-10b-5p	Luciferase reporter assay, Western blot	21471404
MIRT020886	hsa-miR-155-5p	Proteomics	18668040
MIRT022931	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT004489	hsa-let-7g-5p	Western blot;qRT-PCR;Proteomics;Other	20309945
MIRT024932	hsa-miR-215-5p	Microarray	19074876
MIRT025556	hsa-miR-34a-5p	Western blot	21128241
MIRT026702	hsa-miR-192-5p	Microarray	19074876
MIRT004362	hsa-miR-24-3p	Reporter assay;Other	18365017
MIRT031803	hsa-miR-16-5p	Proteomics	18668040
MIRT006368	hsa-miR-10b-5p	CLASH	23622248
MIRT044426	hsa-miR-320a	CLASH	23622248
MIRT044426	hsa-miR-320a	CLASH	23622248
MIRT039976	hsa-miR-615-3p	CLASH	23622248
MIRT038476	hsa-miR-296-3p	CLASH	23622248
MIRT038036	hsa-miR-423-5p	CLASH	23622248
MIRT037910	hsa-miR-455-3p	CLASH	23622248
MIRT004709	hsa-miR-125b-5p	Immunoprecipitation, Luciferase reporter assay, Western blot	23585871
MIRT756205	hsa-miR-663a	qRT-PCR	36275892
MIRT1556166	hsa-miR-1203	CLIP-seq
MIRT1556167	hsa-miR-2467-5p	CLIP-seq
MIRT1556168	hsa-miR-365	CLIP-seq
MIRT1556169	hsa-miR-4737	CLIP-seq
MIRT1556170	hsa-miR-485-5p	CLIP-seq
MIRT1556171	hsa-miR-604	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DDB1	Unknown	19208841
DNMT1	Repression	17934516
DNMT1	Unknown	17490527
DNMT3A	Unknown	17490527
E2F1	Activation	11705881;12695664;12766778;15716352;22621932
EAPP	Repression	15716352
ETS1	Unknown	17370299
ETS2	Unknown	17370299
EZH2	Repression	23289480
FOXM1	Repression	22461910
HDAC1	Unknown	23455154
HDAC3	Repression	18558095
HDAC4	Repression	18558095
HDAC9	Activation	19122829
JUNB	Unknown	17370299
MTA1	Activation	21555589
RB1CC1	Unknown	21637919
SMARCA1	Activation	14604992
SMARCA4	Activation	14604992
SMARCB1	Activation	14604992
SP1	Activation	21830402
SP1	Unknown	10649433;17370299
SP3	Unknown	10649433;17370299
TBX2	Repression	15300007;20624445
TBX3	Repression	15300007;20624445
TBX5	Activation	20802524
ZBTB7A	Repression	17189472
ZNF148	Unknown	20230874

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10353611
GO:0000209	Process	Protein polyubiquitination	IDA	18305112
GO:0000422	Process	Autophagy of mitochondrion	IMP	25217637
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IMP	10205165
GO:0002039	Function	P53 binding	IPI	9529249
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IBA
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA	7739547, 8259215
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	TAS	10208428
GO:0005515	Function	Protein binding	IPI	9529249, 9751050, 11278317, 12581788, 12740913, 15232106, 15989956, 16173922, 16957780, 17110379, 17289033, 17486078, 17517622, 17658461, 17909018, 17955473, 18305112, 18583933, 19057511, 19149898, 19166854, 20208519, 20713054, 21555589, 21988832, 23455922, 23602568, 24855949, 24981
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11800646, 16243918
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	10360174, 17110379, 18305112
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	10360174, 16173922, 17110379, 18305112, 22094112, 27323397
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16243918
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	25217637
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007265	Process	Ras protein signal transduction	IEP	9054499
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15149599, 17569660
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	7603984, 16243918, 16901784
GO:0008544	Process	Epidermis development	IEA
GO:0009303	Process	RRNA transcription	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	17310983
GO:0016604	Component	Nuclear body	IDA	10360174
GO:0016925	Process	Protein sumoylation	TAS
GO:0019789	Function	SUMO transferase activity	EXP	15355988
GO:0019901	Function	Protein kinase binding	IPI	8259215
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030308	Process	Negative regulation of cell growth	IDA	10208428
GO:0030575	Process	Nuclear body organization	EXP	10360174
GO:0030889	Process	Negative regulation of B cell proliferation	ISS
GO:0031647	Process	Regulation of protein stability	IEP	10360174
GO:0031647	Process	Regulation of protein stability	ISS
GO:0031648	Process	Protein destabilization	IDA	9529249
GO:0032991	Component	Protein-containing complex	IDA	9529249
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	ISS
GO:0033235	Process	Positive regulation of protein sumoylation	IMP	19057511
GO:0033598	Process	Mammary gland epithelial cell proliferation	IEA
GO:0033600	Process	Negative regulation of mammary gland epithelial cell proliferation	IEA
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	IEA
GO:0034393	Process	Positive regulation of smooth muscle cell apoptotic process	ISS	20381282
GO:0034504	Process	Protein localization to nucleus	IDA	10360174
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035985	Component	Senescence-associated heterochromatin focus	IDA	16901784
GO:0042593	Process	Glucose homeostasis	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	22094112
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	9529249
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045736	Process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	7739547
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	16901784
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17569660
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17569660
GO:0046822	Process	Regulation of nucleocytoplasmic transport	IEA
GO:0046825	Process	Regulation of protein export from nucleus	IMP	10360174
GO:0048103	Process	Somatic stem cell division	ISS
GO:0050821	Process	Protein stabilization	IDA	9529249, 10360174, 17310983
GO:0051059	Function	NF-kappaB binding	IPI	10353611
GO:0051726	Process	Regulation of cell cycle	IDA	8259215, 9529249, 15149599
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	16243918
GO:0051882	Process	Mitochondrial depolarization	IMP	25217637
GO:0055104	Function	Ligase inhibitor activity	IDA	9529249
GO:0055105	Function	Ubiquitin-protein transferase inhibitor activity	ISS
GO:0060057	Process	Apoptotic process involved in mammary gland involution	IEA
GO:0060058	Process	Positive regulation of apoptotic process involved in mammary gland involution	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19057511
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	18305112
GO:0090398	Process	Cellular senescence	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:0090398	Process	Cellular senescence	IMP	14966292, 16243918
GO:0090399	Process	Replicative senescence	IMP	14720514
GO:0090402	Process	Oncogene-induced cell senescence	IEA
GO:0097190	Process	Apoptotic signaling pathway	IMP	12082630
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	9529249, 10801444, 16173922
GO:0097718	Function	Disordered domain specific binding	IPI	12630860
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	16173922
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	16173922
GO:1902570	Process	Protein localization to nucleolus	EXP	10801444
GO:1903051	Process	Negative regulation of proteolysis involved in protein catabolic process	IEA
GO:1903051	Process	Negative regulation of proteolysis involved in protein catabolic process	IMP	25217637
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IMP	25217637
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	18560357
GO:1990000	Process	Amyloid fibril formation	IDA	12630860
GO:1990000	Process	Amyloid fibril formation	IMP	12630860
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IDA	18560357
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IBA
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IDA	10208428
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	16173922, 18560357
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2000111	Process	Positive regulation of macrophage apoptotic process	IEA
GO:2000111	Process	Positive regulation of macrophage apoptotic process	ISS	20381282
GO:2000435	Process	Negative regulation of protein neddylation	IDA	18560357

Other IDs

• MIM: 600160
• HGNC: 1787
• e!Ensembl: ENSG00000147889

Protein

• UniProt ID: P42771
• Protein name: Cyclin-dependent kinase inhibitor 2A (Cyclin-dependent kinase 4 inhibitor A) (CDK4I) (Multiple tumor suppressor 1) (MTS-1) (p16-INK4a) (p16-INK4) (p16INK4A)
• Protein function: Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. {ECO:0000269|PubMed:16782892, E
• PDB: 1A5E, 1BI7, 1DC2, 2A5E, 7OZT
• Tissue specificity: TISSUE SPECIFICITY: Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific. {ECO:0000269|PubMed:10445844}.
• Sequence:

  MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA
  ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE
  LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD

• Sequence length: 156
• UniProt ID: Q8N726
• Protein name: Tumor suppressor ARF (Alternative reading frame) (ARF) (Cyclin-dependent kinase inhibitor 2A) (p14ARF)
• Protein function: Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-indu
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07392	P19Arf_N	4 → 54	Cyclin-dependent kinase inhibitor 2a p19Arf N-terminus	Family

• Sequence:

  MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPL
  PRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGR
  ARCLGPSARGPG

• Sequence length: 132

Pathways

KEGG:

Endocrine resistance
Platinum drug resistance
Cell cycle
p53 signaling pathway
Cellular senescence
Cushing syndrome
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
MicroRNAs in cancer
Pancreatic cancer
Glioma
Melanoma
Bladder cancer
Chronic myeloid leukemia
Non-small cell lung cancer
Hepatocellular carcinoma

Reactome:

Apoptotic factor-mediated response
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription factors
Regulation of TP53 Degradation
Cyclin D associated events in G1
Stabilization of p53
Transcriptional Regulation by VENTX
Regulation of RUNX3 expression and activity
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
Evasion of Oncogene Induced Senescence Due to p14ARF Defects
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects

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
Acute lymphoid leukemia	Likely pathogenic	rs2489277337, rs2489276701	RCV003444128 RCV003444129	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CDKN2A-related disorder	Likely pathogenic; Pathogenic	rs587780668, rs730881674, rs1800586, rs104894094, rs104894095, rs141798398	RCV004754304 RCV003895073 RCV004754323 RCV004754252 RCV004754253 RCV003396344	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Embryonal rhabdomyosarcoma	Likely pathogenic	rs1819713922	RCV006254253	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial melanoma	Likely pathogenic; Pathogenic	rs2131148082, rs2131095862, rs2131112280, rs2131113797, rs2131148302, rs2131147969, rs2131148812, rs587780668, rs1819949737, rs1317637377, rs2131148531, rs2131096682, rs2131147945, rs587782083, rs587782206, rs587782792, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs2489292482, rs786204195, rs1554653922, rs2489275051, rs2131113914, rs2131094090, rs45476696, rs864622636, rs864622263, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs2489290573, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs886041162, rs763804037, rs2489273847, rs1819691962, rs2489272794, rs2489273553, rs2489290714, rs2489275539, rs2489275366, rs2489290903, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050, rs1820525500, rs398123152, rs2131094356	RCV001368663 RCV001389216 RCV001380818 RCV001380650 RCV001385044 RCV002026032 RCV001992217 RCV000122949 RCV001916136 RCV001942064 RCV002041568 RCV001966514 RCV001986397 RCV000638995 RCV000458116 RCV000687345 RCV001239877 RCV000458351 RCV000161946 RCV001850264 RCV001225200 RCV000168189 RCV000232355 RCV001220072 RCV003746642 RCV000168272 RCV003074637 RCV003058215 RCV002824664 RCV002810716 RCV002938678 RCV000198192 RCV000206296 RCV000206427 RCV000554207 RCV000472170 RCV000471227 RCV000685369 RCV000229122 RCV000234329 RCV000234305 RCV005101031 RCV002512955 RCV000196633 RCV000205342 RCV000472219 RCV000227154 RCV000545232 RCV000471463 RCV000122946 RCV001239756 RCV003585387 RCV003585423 RCV003585616 RCV003584334 RCV003584386 RCV003746843 RCV003747360 RCV003746085 RCV003746237 RCV002524693 RCV003584593 RCV001239759 RCV000638957 RCV000460188 RCV000465157 RCV000466313 RCV000457482 RCV000459258 RCV000692301 RCV000807478 RCV000638987 RCV000638989 RCV002527070 RCV000528787 RCV000549066 RCV000541791 RCV000525976 RCV000543773 RCV000532665 RCV001382593 RCV001377736 RCV000698266 RCV000687200 RCV000638996 RCV000702250 RCV000686351 RCV000705257 RCV000694543 RCV000693768 RCV000692157 RCV000817300 RCV002535739 RCV000798145 RCV000811410 RCV000804158 RCV000817019 RCV001034206 RCV001034096 RCV001034207 RCV001055189 RCV001062903 RCV001378150 RCV001245432 RCV000525168 RCV005094344	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial meningioma	Likely pathogenic	rs749714198	RCV005645086	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pancreatic carcinoma	Likely pathogenic; Pathogenic	rs730881674, rs1554654224	RCV005055353 RCV004760628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs1819949737, rs1482483082, rs864622636, rs1554656253	RCV005868442 RCV003164561 RCV005893712 RCV005902039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic; Pathogenic	rs1060501262	RCV005899447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2131112280, rs398123152, rs2131147969, rs587780668, rs1819949737, rs2131147945, rs587782083, rs587782206, rs587782792, rs2489291666, rs2489290856, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs2489291303, rs1060501265, rs768966657, rs36204594, rs587778189, rs2489276462, rs2489292482, rs2131095688, rs2489275992, rs2489275147, rs786204195, rs45476696, rs864622636, rs864622263, rs1554653976, rs876660436, rs876658511, rs876658220, rs876658534, rs876658556, rs878853647, rs878853650, rs121913386, rs2489290573, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs763804037, rs2489274805, rs2489273847, rs1587340291, rs2489292008, rs121913389, rs121913384, rs121913387, rs1060501266, rs1060501263, rs749714198, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs1131691188, rs199907548, rs1554656411, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs141798398, rs1587330312, rs1587332338, rs11552823, rs1820525500	RCV004951655 RCV001524193 RCV002407276 RCV000163609 RCV002370509 RCV002407255 RCV000130579 RCV000130872 RCV000132342 RCV002355181 RCV002353994 RCV000160422 RCV000160406 RCV000493242 RCV000160412 RCV000160403 RCV000493169 RCV002387233 RCV002389912 RCV000162477 RCV000165798 RCV000167463 RCV002412994 RCV002408254 RCV002430503 RCV002446216 RCV002437664 RCV001183314 RCV000223581 RCV000221580 RCV000493865 RCV000218034 RCV000213802 RCV000222672 RCV000214923 RCV000213270 RCV000213788 RCV000220239 RCV000580515 RCV000561506 RCV003186853 RCV003186854 RCV001186483 RCV000115334 RCV000160421 RCV000167312 RCV000160413 RCV000494082 RCV000573952 RCV000219725 RCV003387334 RCV003387338 RCV005537594 RCV004520409 RCV004520411 RCV002323583 RCV001184202 RCV002411285 RCV001022735 RCV000775814 RCV000580123 RCV000571231 RCV002395167 RCV001025782 RCV000493771 RCV000494450 RCV000494445 RCV000492886 RCV002395198 RCV001027038 RCV002456105 RCV000570486 RCV000561416 RCV000565411 RCV000584101 RCV001012299 RCV000775634 RCV004949899 RCV006386984 RCV005306166 RCV002336628 RCV001025672 RCV005791978 RCV002411904 RCV000166566	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lip and oral cavity carcinoma	Likely pathogenic; Pathogenic	rs121913388, rs121913389, rs1819713922	RCV001255666 RCV001255669 RCV001255665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Pathogenic	rs730881677	RCV005901908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs1060501266, rs730881677, rs1554656253	RCV005899449 RCV005901907 RCV005902038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs121913387, rs730881677	RCV003332170 RCV005901906	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic; Likely pathogenic	rs1819949737, rs1800586, rs864622636, rs104894094, rs763804037, rs730881677, rs1554654224	RCV005868443 RCV002243829 RCV005893713 RCV000415140 RCV006254378 RCV005899660 RCV005898536 RCV005901909	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma and neural system tumor syndrome	Likely pathogenic; Pathogenic	rs587780668, rs587782792, rs730881674, rs1800586, rs768966657, rs45476696, rs864622636, rs876660436, rs876658220, rs587778189, rs878853647, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs2489276684, rs1060501266, rs749714198, rs1131691186, rs199907548, rs1554656411, rs730881673, rs754806883, rs1563888944	RCV002498582 RCV003474789 RCV003474829 RCV000763194 RCV003474844 RCV003474952 RCV003474986 RCV003475031 RCV003475002 RCV003475024 RCV004567708 RCV003473075 RCV003473076 RCV000763193 RCV003473078 RCV002496319 RCV003475645 RCV003475646 RCV003476034 RCV003476033 RCV003476185 RCV003476184 RCV003476189 RCV004568800 RCV004569210 RCV002506392 RCV003472005 RCV003472216	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma, cutaneous malignant, susceptibility to, 2	Likely pathogenic; Pathogenic	rs587780668, rs1800586, rs878853647, rs121913388, rs587776716, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs2489291220, rs1060501266, rs1060501262, rs730881673, rs754806883	RCV000010023 RCV000763194 RCV000680454 RCV000010012 RCV000010013 RCV000010018 RCV000010021 RCV000010022 RCV000010027 RCV000010030 RCV000010032 RCV000010033 RCV004555919 RCV001849376 RCV001613294 RCV005398892 RCV002506392	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma-pancreatic cancer syndrome	Pathogenic; Likely pathogenic	rs2131112280, rs398123152, rs587780668, rs587782206, rs2489290856, rs730881675, rs730881674, rs730881673, rs1800586, rs1060501265, rs587778189, rs2489292482, rs2131095688, rs45476696, rs864622636, rs864622263, rs876658534, rs876658556, rs1819725713, rs878853650, rs2489290573, rs587776716, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs2489327427, rs2131111833, rs121913389, rs1060501266, rs1060501262, rs749714198, rs1064794292, rs1131691187, rs199907548, rs2131114005, rs1554656411, rs1554656253, rs754806883, rs141798398, rs730881677, rs2131094356	RCV004793474 RCV005867145 RCV002498582 RCV005867919 RCV005869805 RCV000576843 RCV002288679 RCV005867963 RCV000576396 RCV005869820 RCV005867977 RCV005869825 RCV005248755 RCV000576665 RCV005868109 RCV005629514 RCV003316206 RCV003316223 RCV005868126 RCV003140341 RCV005600850 RCV005870108 RCV000010015 RCV000010019 RCV005364874 RCV000410204 RCV000576733 RCV000409228 RCV005357105 RCV003315501 RCV003316927 RCV003316976 RCV005629562 RCV005398594 RCV005355808 RCV000988152 RCV001310108 RCV005869511 RCV002272262 RCV000030680 RCV005869598 RCV005869632 RCV005398892 RCV002506392 RCV005870853 RCV001310109 RCV005870892 RCV005867850 RCV001523808	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs587782206, rs864622636, rs876658220, rs121913388, rs121913389, rs121913387, rs730881673, rs141798398, rs1587330312, rs1820531050	RCV004668793 RCV005230085 RCV006273641 RCV005229774 RCV006273727 RCV000430418 RCV006273910 RCV005231320 RCV004669113 RCV004671215	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian neoplasm	Pathogenic	rs1800586	RCV002243829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Pathogenic	rs864622636, rs121913384	RCV005893711 RCV005900732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spindle cell sarcoma	Pathogenic	rs1819949737	RCV006254314	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic; Likely pathogenic	rs1554653922, rs587778189, rs121913384, rs730881677	RCV005930375 RCV005895043 RCV005900731 RCV005901904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic; Likely pathogenic	rs587782206, rs730881677, rs1554654224, rs1554656253	RCV001250938 RCV005899659 RCV005898535 RCV005901905 RCV005902037	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1060501265	RCV005931902 RCV005899448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Alveolar rhabdomyosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical endometrial hyperplasia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN STEM NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOGENESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	-; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Li-Fraumeni syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maffucci syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA ASTROCYTOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASOPHARYNGEAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoblastic osteosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEZARY SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA 4	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRISOMY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VULVAR LICHEN SCLEROSUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	24964769		★☆☆☆☆ Found in Text Mining only
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	29537991, 30778854		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	30975543, 31828584		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	11276008, 15014032, 20616110		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	10498902, 11804749, 12485439, 13679450, 15008871, 17488404, 18331779, 28796927		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	LHGDN	12429789, 17488404, 18331779		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10073286, 10634644, 11413509, 14513284, 16949174, 21681782, 25784651, 8555068, 8616035, 8652384, 9447829		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10025891, 10090949, 10430092, 10512159, 11118035, 11168496, 11301189, 11380395, 11380466, 11413509, 11441822, 11455973, 12032783, 12036898, 12127556, 12357355, 12870051, 14513284, 15607365, 15878620, 16618932, 18328560, 18489987, 18519632, 18551992, 18617057, 19837270, 20013897, 20453839, 21414664, 21549623, 21622646, 22851563, 26104880, 26194343, 26463672, 27184773, 27967319, 28214896, 28768142, 29446543, 29552179, 29654170, 30592434, 31112375, 31350265, 7544647, 7585472, 7630190, 7630199, 7718873, 7742527, 7780130, 7795238, 7833469, 7919362, 7994022, 8547074, 8547131, 8555068, 8616035, 8618438, 8631023, 8637233, 8637234, 8647524, 8668350, 8683987, 8704231, 8724524, 8946928, 9029018, 9130611, 9166859, 9204978, 9233578, 9258663, 9354681, 9355972, 9447829, 9737691, 9922477		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	27756164		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10634644, 19667402, 20699639, 29432785		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11283136, 18587015, 21544632, 3042790, 30914194		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10071231, 10353729, 10601379, 10605694, 10937052, 11232644, 11309302, 11342770, 11448914, 11861396, 11910361, 11920642, 12000709, 12127691, 12194996, 12375265, 12406555, 12455028, 12473584, 12514789, 12802288, 12841866, 12898597, 14501820, 14648656, 14742312, 15043304, 15064707, 15185075, 15197775, 15201980, 15246559, 15269146, 15578700, 15612080, 15617840, 15785933, 15870861, 15985168, 15998377, 16163549, 16462152, 16598757, 16619216, 16675157, 17276933, 17460447, 17581420, 17903034, 17981214, 18161865, 18410530, 18449464, 18663352, 19212685, 19347018, 19366452, 19623034, 19795445, 19945765, 20082476, 20402675, 20727021, 20930544, 20978327, 21068132, 21073868, 21538028, 21649526, 21674126, 21820152, 21857254, 22217548, 23254264, 24145653, 24752337, 25123601, 26246306, 26408346, 26862903, 26867769, 27080983, 28454340, 29085443, 29848709, 30178167, 30354850, 30375264, 31001805, 31014281, 31157548, 31492932, 7566978, 7775254, 7845688, 7889533, 8589035, 8621247, 8934532, 9052747, 9155671, 9187111, 9205067, 9333024, 9645340, 9751761, 9759649, 9788631, 9873831		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12514789, 12819388, 15367885, 15608367, 16619216, 17600882, 17967182, 18161865, 18202755, 18346352, 18486890		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	20135361		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	16224217, 17326708, 18410530, 18665038, 19043591, 20576920, 22440936, 25280564, 26192918, 29961009, 9205067, 9333024, 9542513		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	CTD_human_DG	23525077		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20815811, 29172278		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	10365910, 14742312, 15189501, 15266335, 15612080, 18559592, 21164364, 21621871, 24552182, 24618618, 26069186, 26986751, 27987577, 8609061		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	10719365, 11313791, 12000709, 12925390, 14657708, 15133762, 15608367, 20665497, 21150883, 22368299, 25053516, 29216274, 7726912, 8613012, 9439668, 9820739		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	26246306		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	20135361		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	29135516		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	15213599, 17581420, 22766790		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	20135361		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	20135361		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	10928172, 12684623, 17912431, 22157933, 27279281, 28664668		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	12624503, 17912431		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10220498, 10443678, 10671696, 10976694, 11276008, 11306456, 11410326, 11549606, 11740049, 12105864, 12469138, 12790793, 14562378, 15014032, 15064707, 15709190, 15892297, 16152625, 16687485, 16699497, 17072968, 17143260, 17276933, 17278092, 18058237, 20208994, 21423154, 27976639, 28600574, 30375264, 30578081, 31593035, 7775254, 8855819, 9490271		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	11740049, 14601048, 17072968, 17117177		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10646864, 16820927, 16902913, 20653064, 27976639		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	BEFREE	14614047		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12120230, 12454511, 12684406, 15042681, 15264268, 15526363, 15814628, 16152625, 16906516, 20195775, 20486992, 20696638, 22368299, 22636603, 23504555, 25270420, 25331797, 25417611, 27617574, 28977861, 8887073		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	11801557		★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	24747643		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11818530, 15662588, 18509008, 24390213, 26839173		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22733721		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	24747642		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331, 35462410, 37026918, 37997497	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10025891, 10430092, 10512159, 10733508, 11413509, 11455973, 12036898, 14513284, 15282669, 15878620, 18489987, 18617057, 20013897, 20884963, 21414664, 22851563, 25675863, 26194343, 27967319, 28768142, 29446543, 29552179, 30041662, 31112375, 31350265, 7544647, 7718873, 7742527, 7795238, 7833469, 7994022, 8618438, 8637233, 8637234, 8668350, 8683987, 8704231, 8724524, 9166859, 9204978, 9354681, 9922477		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	GENOMICS_ENGLAND_DG	27756164		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	11064355, 11532526		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	10086736, 10803523, 11522621, 12149228, 15832193, 16406514, 20332669, 21035853, 24449825, 26498513, 27102345, 9616165		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	17438182		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10484981, 14688019, 15029256, 16623784, 17206475, 17510426, 19806481, 22574128		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	14507338, 19240607, 19805356, 26206478		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10378889, 10706122, 10803528, 12040438, 12846894, 15896902, 16052518, 18246599, 19710698, 19737931, 25320005, 2787798, 3872164, 6090008, 6331549, 6833950, 7742529, 8724524, 8826890, 8946928, 9164185, 9426690, 9638973, 9722600		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29168048		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	10928172, 15959912, 17912431, 24747642, 29109526, 29430168		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	20978019		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	29430168	Associate	★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille syndrome	Pubtator	37099537	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	31096432		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	24244503		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	19047133		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease	Alzheimer disease	Pubtator	18761660, 24742402, 26510741, 36012652, 9176387	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34219731	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	15269146		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	15078490, 31680334		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	24969987	Associate	★☆☆☆☆ Found in Text Mining only
amyloidosis IX	Amyloidosis	Pubtator	12610506	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17916583		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26210997	Associate	★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	24817381, 26530750, 28454340		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	10564531, 12086863, 12924440, 19186005, 26895810, 29499306		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	10536183, 10667596, 10896207, 11029499, 12168116, 12173338, 21169405, 22586120, 7805033, 7987821, 8548755		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	14631364, 17206475		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	10359140, 10433931, 11307615, 11764090, 16102584, 18506188, 19805356, 24353325, 31832685, 9776413		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12097277, 18753363, 30191474, 31235699, 8561866		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	27801764		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	24244503		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	19423161, 28777690		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	24344027	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	10319873, 25407517, 32698529	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	21775993	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	35437049	Associate	★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	29432785		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	17459456	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29945918		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	36351537, 36835617	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	17600882, 21492076, 21636682, 21984975, 22264792, 22782330, 22806240, 23555182, 23565280, 24986516, 26646266, 26983359, 27114589, 27454293, 27672215, 27693633, 28138026, 28232723, 29298796, 29735403, 29769629, 30258276, 31734355		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	23565280, 30836094, 35941161, 36717525, 37200008	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anthracosis	Anthracosis	BEFREE	21073868		★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus neoplasm	Pubtator	18349847, 23018436, 24021343, 24817381, 25465729, 26457030, 32585996, 34310698	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23185405		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	23185405	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23185405		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	24302590	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	19343170		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	19343170	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	24365123, 34062172	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	36291095	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	21146954, 24365123, 28698188		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic valve disease	Pubtator	37500054	Stimulate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	10928172, 15959912, 17912431, 24747642, 29109526, 29430168		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	18190588		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17351341, 19343170, 20056914, 21151960, 22178423, 24599170, 26909594, 27773886, 27905995, 30176239, 30672051, 31299986		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	31325108		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	11120858		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	12507899	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16802342, 37547319	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37102654	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10359140, 10427138, 10433931, 10484976, 10564531, 10665922, 10667596, 10797439, 10896207, 11029499, 11303791, 12168116, 12237846, 12456339, 14638962, 15367334, 16614947, 17493032, 19240607, 20068183, 21470325, 22586120, 23721661, 24884915, 25550546, 25853694, 27402815, 31177992, 7805033, 7849711, 8548755, 8674005, 8847566, 8857999, 9098651, 9224526, 9291941, 9454886, 9780003		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10665922, 10764044, 11278920, 12548606, 14565158, 15367334, 15970925, 17493032, 20730472, 21113787, 21636552, 23721661, 24345274, 25853694, 26317630, 28699883, 28960623, 29564591, 29687258, 30051528, 31151164, 31177992, 31733156, 32619305, 33077924, 33081848, 33914057, 34355449, 35701666, 36031351, 36271929, 36725354, 37032198, 37316586, 37550258, 37947008, 38183430, 9000591	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	LHGDN	16614947, 19086579		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21470325, 28181325	Inhibit	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	11825926, 7606004, 7994022	Inhibit	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	20039273		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	23687089, 24025864, 32345961, 32928147, 7632931, 9446664	Associate	★☆☆☆☆ Found in Text Mining only
Atelosteogenesis type 1	Atelosteogenesis	Pubtator	24353325	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17351341, 19343170, 20056914, 21151960, 22178423, 24599170, 26909594, 27773886, 27905995, 30176239, 30672051, 31299986		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17351341, 19343170, 21151960, 22706276, 24599170, 27539542, 27773886, 27905995, 36633253, 37117763	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32358844	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	14717921, 17183247, 19246640	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	18372918, 18657295		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23579029, 28850053, 31092636		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36267464	Associate	★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	24330849, 27090891, 27125204		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10477703, 12060387, 19174606, 21410763, 22754359, 23060540, 28210822, 30830578, 7670111, 9473234, 9546285, 9563903		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	11830494, 12060387, 12149228		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	16897188, 7576105, 9375748		★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	15185075, 16551852, 22440936, 9205067		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	10319873, 11016622, 11719461, 11910361, 15017433, 15492292, 15824739, 16224217, 16278815, 17326708, 18410530, 18665038, 18831746, 19043591, 19491850, 20576920, 21820152, 23588239, 25280564, 25735914, 26068095, 26192918, 29961009, 31001805, 8934532, 9155671, 9834265		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	10319873, 10601379, 15017433, 17326708, 18538141, 18831746, 19043591, 19584833, 19670330, 20576920, 20927195, 24025864, 25280564, 26068095, 26104750, 26192918, 30670490, 31001805, 35437997	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	15824739, 19043591		★☆☆☆☆ Found in Text Mining only
Basal Cell Cancer	Basal Cell Neoplasm	BEFREE	21427726		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	12702553, 18760195		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	BEFREE	11485924, 15073599		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	10595918, 12807717, 12924439, 17203593, 21728901, 22727996, 27770808, 28000027		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	11544531, 19223589		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	CTD_human_DG	15144691, 16860786		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10640976, 21694441		★☆☆☆☆ Found in Text Mining only
Benign tumor of pancreas	Benign Tumor Of Pancreas	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	11802210		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	15014024, 7796400, 9414654		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasm	Biliary Tract Neoplasm	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	12107841, 15471559, 33754015, 37341068, 9414654	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10022125, 10393843, 10938379, 10945601, 10958872, 11205911, 11410506, 11948103, 12372886, 12477660, 12532425, 12853838, 15161057, 15492852, 15507675, 15589816, 15821584, 15897688, 15987713, 16100943, 16316628, 17021825, 17119258, 17256055, 17612565, 20683150, 20800513, 23083854, 23292502, 24675970, 25239644, 25955758, 27429046, 28445934, 29642177, 30149755, 30446453, 30655885, 31028363, 31028457, 7553622, 7563186, 7576106, 7577470, 7585472, 8541841, 8747595, 8900425, 9171998, 9221807, 9334586, 9436977, 9515812, 9516934, 9850064		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	11839665, 11948103, 12073046, 12853838, 15492852, 16100943, 16316628, 18334837		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	12973940, 15987713		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	15755284, 24673583	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	11189209, 11919388, 12644017, 18489987, 18551992, 8555065, 8616035, 8724524		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	18466028	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	CTD_human_DG	30259626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	9309118	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	1537894		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	9309118		★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	27342647, 27833960, 35466139	Associate	★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	38527980	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	30126037		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35908805	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10536183, 10938390, 11303791, 12447702, 12722932, 15015656, 17223348, 18566217, 23115063, 26839018, 28138026, 7794250, 7987828, 8689637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	11101148, 15779580, 21381012, 24968695, 31287555, 33871399, 34864569, 34948172, 37527678, 37572870, 40721593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	CTD_human_DG	15144691, 16860786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain neoplasms	Pubtator	28445153	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Stem Neoplasms	Brain Stem Neoplasms	CTD_human_DG	24098593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Stem Neoplasms, Primary	Brain Stem Neoplasms	CTD_human_DG	24098593		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	CTD_human_DG	15144691, 16860786		★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	26124340		★☆☆☆☆ Found in Text Mining only
Branchioma	Branchioma	BEFREE	25104331		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	30733081		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10376981, 10397273, 10914724, 10922411, 10960771, 11023200, 11029509, 11163109, 11319797, 11336244, 11369056, 11494155, 11518467, 11880707, 12200117, 12438261, 12579530, 12810676, 14534701, 15122588, 15138605, 15252852, 15450420, 15578730, 15879498, 16919268, 16988943, 17016600, 17061045, 17145810, 17624602, 17899364, 18006786, 18174243, 18239974, 18245468, 18507837, 18519679, 18593338, 18703154, 18714178, 18725978, 19125298, 19130492, 19477956, 19571771, 19657672, 19921426, 20056647, 20081803, 20093296, 20513530, 20568901, 20614030, 20661408, 21320484, 21488187, 21710692, 21868547, 22824969, 22833492, 22860097, 23238983, 23336272, 23593120, 23645774, 23712779, 24956567, 25064638, 25239644, 25344837, 25684485, 25955758, 26125737, 26339389, 26751376, 26927017, 27517156, 27688086, 27835607, 28068434, 28068628, 28243323, 28276595, 28412731, 28445153, 28551632, 29110637, 29388151, 29634384, 29708279, 29868468, 29915929, 30003738, 30039340, 30086788, 30362613, 30457165, 30478914, 30572486, 30776589, 30896874, 30941950, 31572679, 31721206, 7547249, 7591270, 7640217, 7796417, 7923151, 8824556, 9259969, 9570150, 9652738, 9816158, 9862580, 9892114, 9990866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20948315		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	10376981, 11839581, 15050918, 15318938, 15879498, 16766534, 16869768, 18006786, 18174243, 18519679, 18936692, 19125298, 19131428, 19240236, 19509227, 19657672, 19921426, 19940364, 20081803, 20169162, 20490964, 20614030, 20661408, 21168302, 21916701, 21920875, 22348646, 22860097, 22986510, 23336272, 23544012, 23593120, 23730211, 24146864, 24559156, 24884479, 25064638, 25231991, 25344837, 25927147, 25986046, 26125737, 26338965, 26339389, 26452468, 27102007, 27835607, 28027327, 28068434, 28276595, 28403857, 28445153, 29915929, 29936452, 30003738, 30086788, 30128536, 30457165, 30896874, 30941950, 30998679, 31231091, 31250942, 31839602, 34267603, 34972731, 35092383, 35562750, 36052076, 36071033, 36312586, 36336905, 37857018, 39940786, 40649906, 7547249, 7640217, 8686738, 9528751, 9862580, 9888465, 9990866	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	21488187, 36203222	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32067956	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	17527088, 23436997		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	27861592		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	11360201, 11438467, 14712292, 16158958, 17052484, 18024641, 21200153, 22903691, 25542698, 28801451, 7849311, 9473234		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	16158958, 9473234	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	ORPHANET_DG	18838613		★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28192277	Stimulate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	17016600, 23289480, 25640361, 29664911, 30029797, 30882625		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10389982, 10535995, 10620109, 10830779, 11079730, 11676855, 11749694, 11819863, 12000709, 12046062, 12181248, 12632489, 12716465, 12717828, 15112341, 15779580, 16100457, 16163549, 16534497, 16803511, 17008550, 17117177, 17970080, 18032825, 18219279, 18395906, 18622497, 19331161, 19430707, 20032395, 20170541, 20345486, 20388212, 20562848, 20653064, 21423154, 21436693, 21455633, 21709441, 21747645, 22228178, 22558275, 22938432, 23361049, 23497965, 23504555, 23727582, 23803020, 23832541, 24037287, 24146864, 24254306, 25344837, 25361631, 25417611, 25633809, 26137587, 26422859, 27479745, 27517925, 27770808, 27833960, 27871161, 28376920, 28830827, 28836534, 29422018, 30150594, 30279206, 30643010, 31350975, 31856740, 32576587, 33046033, 33550279, 35771229, 37291757, 38206516, 7577470, 7670111, 8698617, 9414654, 9436977, 9439683, 9546345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	12907744, 17079452, 20884963, 24302590, 32521925	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoid Tumor	Carcinoid tumor	Pubtator	11231488	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	26008974	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10071231, 10328220, 10353729, 10534174, 10619963, 10627132, 10646864, 10704681, 10754490, 10766393, 10830779, 10922411, 10937052, 10976724, 11007034, 11025389, 11034592, 11078762, 11159196, 11223676, 11232644, 11238187, 11286481, 11289098, 11289106, 11309512, 11342770, 11410326, 11495043, 11496321, 11499840, 11518467, 11571731, 11801303, 11819820, 11820618, 11876522, 11929827, 11943705, 12097277, 12189502, 12210063, 12210082, 12454817, 12460459, 12598309, 12684623, 12692194, 12692837, 12730870, 12875969, 12890389, 12910525, 12920579, 12924439, 12924440, 14556664, 14562378, 14563526, 14576481, 14584079, 15014024, 15043304, 15197775, 15226775, 15257544, 15297411, 15534905, 15619206, 15619212, 15629771, 15859515, 16163549, 16290057, 16322687, 16390235, 16406113, 16415792, 16447252, 16534497, 16572177, 16619489, 16633070, 16647956, 17036393, 17072968, 17300232, 17340131, 17359536, 17612565, 17641416, 17671189, 18192968, 18349847, 18415748, 18446622, 18449464, 18484097, 18671886, 18813118, 18936692, 19131428, 19170207, 19331161, 19623034, 20081806, 20091864, 20112504, 20186832, 20204295, 20334896, 20661408, 20681787, 20683001, 20708155, 20843112, 21085986, 21131838, 21412930, 21423154, 21681144, 21789189, 22422578, 22429295, 22991302, 23060353, 23095507, 23499169, 24076770, 24145653, 24747643, 24821878, 24925218, 24935963, 25289642, 25523612, 25605180, 25917539, 26008974, 26096306, 26352551, 26764038, 26900815, 27404322, 27447534, 27530957, 27770808, 27844328, 28664668, 28840766, 29251996, 29670052, 29744637, 29878867, 30039340, 30189236, 30312320, 30718984, 30836703, 31492932, 31519630, 31600177, 7553622, 7585567, 7614482, 7744694, 7747814, 7775254, 8621247, 8635161, 8640773, 8821952, 8835820, 8840981, 8945609, 8957063, 8980248, 9070336, 9072554, 9112579, 9159345, 9187111, 9242437, 9333020, 9366289, 9414654, 9648588, 9698478, 9759649, 9764589, 9815578, 9846966, 9889036, 9894245, 9923922, 9990866		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	11819820, 21113787, 25884453, 29615459, 29691299, 29788963, 30051528, 32879414, 34312479	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	20884963, 33664427	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	15959912, 22157933, 23778141, 29430168	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	10998150, 12485439, 15257310, 18760195, 19578363, 22082146, 23599161, 27039730, 29405243	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	18936692, 24373193	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	24146864	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	12010891, 26125737	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	10682682, 21709441, 22027748, 26132201, 28155970, 33459390, 37773079, 39748714, 40462124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	20015385	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	27902476	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11286481, 11511787, 11953887, 12433278, 14507645, 14966347, 15112341, 16014626, 16254459, 17690210, 18161048, 19567783, 20079733, 22320884, 22860085, 23437062, 23894465, 24254306, 24346768, 24400091, 24406287, 24807532, 24931142, 25822088, 25923138, 26165647, 26457819, 26653219, 29019900, 29487225, 30191636, 30249208, 30773529, 32703154, 34405225, 35771229, 36195876, 36291095, 36309506, 36403263, 36611155, 37124062, 37978846, 38078880, 38184822	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20569442	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	10535995	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	12368185, 15257310, 23724131, 26206555	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	17239429, 19100258, 23763281, 24020724, 24151431, 24656093, 27479745, 28599442		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	15318938, 16869768, 17996643, 18936692, 20427430, 21756866, 21920875, 24093668, 24146864, 24978026, 25711229, 34001017	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	15154011, 16862075, 20032395, 26430808, 35477295	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	21857254	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18219279, 26981779, 28359267, 36602798	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10022125, 10938379, 10945601, 10958872, 11205911, 11223676, 11410506, 11948103, 12372886, 12477660, 12532425, 12538475, 12853838, 15161057, 15492852, 15507675, 15589816, 15590562, 15821584, 15897688, 15987713, 16100943, 16316628, 17021825, 17119258, 17612565, 20683150, 20800513, 22422578, 23083854, 23899065, 24459064, 24675970, 25239644, 25955758, 27429046, 28445934, 29642177, 30149755, 30446453, 31028457, 7563186, 7577470, 7585472, 8541841, 8631601, 8747595, 8900425, 9171998, 9221807, 9334586, 9436977, 9515812, 9850064		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	15083191, 27277704, 28849066, 29446476, 30873218		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10037171, 10063314, 10365910, 10469971, 10735505, 10986054, 11106248, 11280771, 11374847, 11414196, 11445839, 11550279, 11589304, 11719516, 11753657, 11872642, 11956078, 11956099, 12101420, 12115568, 12169206, 12362273, 12379883, 12399123, 12581892, 12802286, 12918069, 12930158, 12970072, 15455389, 15814621, 15849750, 15911247, 16004934, 16152615, 16166426, 16222700, 16278393, 16337111, 16613540, 16828922, 16912209, 17876837, 17923752, 17936562, 18006804, 18379362, 18406873, 18550205, 18751376, 18949413, 19000069, 19375815, 19525976, 19641316, 20360128, 20444664, 20565749, 20811718, 21164364, 21229606, 22134685, 22146010, 22154617, 23010077, 23111194, 23276293, 23358651, 23709347, 24077454, 24154929, 25069886, 25239644, 25331797, 25966845, 26647789, 26674347, 27072261, 27391317, 27716889, 28977861, 29030066, 29541247, 29667179, 30208166, 31019774, 31157548, 31652270, 31662516, 7551956, 7563154, 7566983, 7614457, 7882351, 7936665, 8589032, 9032263, 9066685, 9464545, 9508209, 9614442, 9624535, 9625844, 9673367, 9731504, 9751761, 9858892, 9891228, 9891478		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	10471040, 17692085, 24913706, 24936796, 26043844, 26191276, 27770808, 31659108, 38012622	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	12000709, 15985168, 16127777, 19006382, 21063957, 21469422, 22782330, 25156567, 25240578, 26669280, 27486979, 28007776, 28145465, 28720843, 28726808, 28810144, 29273724, 29337182, 29769629, 30348604, 30497813, 31243486, 32482799, 32573775, 32641744, 33525943, 34625409, 34665935, 35001868, 35180847, 35231699, 35392854, 35414481, 35511415, 35752568, 36040493, 36346366, 36409970, 36508685, 36785917, 36795432, 36889551, 36999792, 37105116, 37355152, 38086003, 39793706, 40107149	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35445726	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	11159196, 11749694, 17201148, 21330832, 22521293, 25137021, 25853938, 27144525, 28251886, 29135120, 33157048, 33547292, 33664427, 33932757, 34331411, 34980126, 35979371, 36264186, 36917021, 37026918, 37189176, 37479138, 37916370, 38017544, 40256740	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29076874	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32111252, 34687579, 7591954	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	15309021, 29788963, 30918106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	16862075	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10646891, 11267938, 11710944, 12499437, 12648234, 15140233, 15257310, 15309021, 15373786, 15785933, 16100457, 16358814, 16390241, 16445657, 16598757, 16998595, 17094392, 17632454, 17893905, 18047520, 18223558, 18300235, 18449464, 19256750, 19365840, 19567503, 19945765, 20032395, 20069634, 20090212, 20103831, 21786153, 22067401, 22146523, 22299207, 22524808, 22684221, 23065573, 23299525, 23580324, 23599161, 23899065, 24104554, 24356192, 24742402, 24962247, 25072932, 25271758, 25303977, 25589618, 25605180, 25674264, 25735349, 25782708, 25884453, 25885064, 26030731, 26045807, 26137587, 26339383, 26348982, 26400483, 26430808, 26481441, 26972540, 27039730, 27072243, 27080983, 27145277, 27411473, 27488595, 27833960, 27834349, 28177435, 28179162, 28212672, 28453456, 28581676, 28836534, 28849066, 28954785, 29115643, 29405243, 29430168, 29466950, 29924316, 29973234, 29980281, 30312320, 30360033, 30446465, 31481045, 31856740, 31903158, 32025868, 32304153, 32350806, 32500594, 32664330, 32713038, 32972785, 33073644, 33219256, 33247678, 33274608, 33717076, 34257574, 34291682, 34972722, 36284309, 36348437, 36656212, 36869079, 37132663, 37148002, 37316414, 37565840, 37801862, 37821306, 37840151, 38041048, 38150257, 38342005, 38376311, 38379276, 38527980, 38527989, 39354528, 39596210, 39694330, 39748723, 39929151	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15858126, 21819702, 29076874, 35920973	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21857254, 28679648, 39222919	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	11045568, 11747331, 15161057	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	10498902, 10998150, 12001124, 12485439, 12934112, 14521217, 15160522, 17370299, 17537196, 18070208, 18760195, 19287961, 19298278, 19578363, 22082146, 24625418, 27438511, 29764277		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	20135361		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	15213599, 17581420, 19623034, 27902476, 28984301, 29250656, 31600177		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	20135361		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	20182342, 20829441, 26434631, 30475447, 30952735, 31263021		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10471040, 11410518, 11567230, 11605066, 11780367, 11992549, 15350359, 16000597, 17466040, 18481196, 20603238, 21728901, 23225431, 23572389, 24913706, 25972325, 27572321, 27648827, 28000027, 28521400, 29435063, 30128536, 31659108, 7591208, 7743516, 9036870, 9052747, 9115583, 9159345, 9495360		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	BEFREE	11787853, 15985168, 9665487, 9735394		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	24986516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	24418859, 25713418, 26900815		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	31713897		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	14692829, 27902476, 28700424, 30952735		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	27902476	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	38146588	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36305972	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24146864, 25751743		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23134948, 23315372, 24725463, 25744911, 27356775, 28192277, 28868898, 31299986		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23134948, 28192277	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	24599170	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	24599170		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	24599170	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	30219053	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	16620915		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31209329		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	25198673		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	35904890, 37947008	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	7794250		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	30126037		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22776031, 28716248, 28975602, 29881905	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	22621687		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	22621687, 28975602	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	19293724, 19343170, 24135527, 28706475, 28716248		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	10211947, 10675486, 14506638, 15041998, 15073118, 15312681, 15482563, 15998377, 16494930, 16633071, 17294450, 17359536, 17369842, 17596760, 18232003, 18842994, 18936966, 18958930, 19468254, 19843667, 19941372, 20217582, 20829441, 20926123, 20937225, 21338529, 21567202, 21674126, 22072122, 23494221, 23505442, 24714974, 25579180, 25605180, 25910412, 27344169, 27401842, 27458253, 27644676, 27669738, 27761872, 28341182, 28453456, 28521400, 28617556, 29023464, 29168898, 30150594, 30569945, 31014281, 31423197, 9166931, 9698478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	12598309, 14675665, 15041998, 15073118, 15452898, 15492761, 15998377, 16028838, 16462152, 16540490, 16778587, 17078096, 17197917, 17239429, 17294450, 17415114, 17488337, 17596760, 18466028, 18753961, 18936966, 18958930, 19147580, 20186007, 21053103, 21228361, 21558960, 21933584, 22034884, 22585722, 22700382, 23261355, 24105727, 24172101, 24477172, 24625757, 24656093, 25120798, 25910412, 25938364, 26379150, 27401842, 27443891, 27458253, 27706717, 28123559, 28509346, 28599442, 28705710, 29438168, 29697437, 29734247, 30275203, 30504376, 30626248, 30811902, 31619262		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	LHGDN	15915391, 16313047, 18223479		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10211947, 12911724, 14506638, 15073118, 15998377, 16494930, 16633071, 17294450, 17359536, 17369842, 17596760, 18232003, 18842994, 18936966, 18958930, 19100258, 19468254, 19843667, 19941372, 20112504, 20217582, 20829441, 20926123, 20937225, 21228361, 21567202, 21674126, 22072122, 23494221, 23505442, 24046371, 24714974, 25361681, 25579180, 25605180, 25910412, 27344169, 27401842, 27458253, 27644676, 27669738, 27761872, 27984373, 28341182, 28453456, 28521400, 28617556, 29023464, 29168898, 30150594, 31014281, 31423197, 31492932, 9159345, 9698478		★☆☆☆☆ Found in Text Mining only
Chagas Disease	Chagas disease	Pubtator	19414370	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10025891, 10090949, 10360377, 10512159, 11154239, 11413509, 11426564, 11455973, 12036898, 12357355, 14513284, 15716599, 15878620, 16344676, 16818274, 18489987, 18617057, 18838613, 20013897, 20453839, 21414664, 21889209, 22851563, 26194343, 26527286, 26575185, 27184773, 27756164, 27960642, 27967319, 28481918, 28768142, 28886309, 29236701, 29446543, 29552179, 30592434, 31112375, 31350265, 7544647, 7606004, 7630190, 7718873, 7727766, 7742527, 7795238, 7833469, 7994022, 8575754, 8618438, 8622065, 8637233, 8637234, 8668350, 8683987, 8704231, 8724524, 9089742, 9166859, 9204978, 9324282, 9354681, 9355972, 9372085, 9399648, 9922477		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	20453839		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	GENOMICS_ENGLAND_DG	27756164		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	14629754, 17259542		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10484981, 14688019, 15029256, 16623784, 17206475, 17510426, 19806481, 22574128		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	14507338, 19240607, 19805356, 26206478		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	10334895, 10718212, 11034592, 12210082, 12360471, 12738733, 15467712, 17239935, 25789533, 8760583		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	11034592, 12213730, 15467712, 22429346, 24186137, 24563076, 25536104, 27009864, 29484968, 29848569, 31659107, 33765338, 34810298, 35986087	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	12360471		★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	24390753, 34608877, 35897137	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	LHGDN	12360471		★☆☆☆☆ Found in Text Mining only
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	16390235	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondromyxoid fibroma	Chondromyxoid Fibroma	BEFREE	17559135		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	10709095, 14991902, 16273214, 16765318, 18624751, 19336518, 25432631, 31615936, 8689636, 8689637		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	11332612, 18624751, 19336518, 25432631, 31604924, 31615936, 36926116	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	16765318		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	17559135	Inhibit	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	18071362, 24983247, 29148152		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	18071362, 21602918, 23019410, 24983247, 27072194, 36657718, 37434245	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	31916407	Inhibit	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	23065465		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	16616114		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	17474983	Associate	★☆☆☆☆ Found in Text Mining only
Chromosome Deletion	Chromosome Deletion	CTD_human_DG	21526190		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	7742529	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	15888044, 28192277		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	16949174		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11042528, 11688461, 12040434, 16053658, 16412137, 16565223, 16897188, 19347729, 22047081, 24004666, 31631728, 7576105, 7670111, 7795238, 9375748, 9531609		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	22818553, 22829758, 29447461, 29808102, 31019774, 31481045, 31630815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis	Periodontitis	BEFREE	20978019		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11171828, 12143052, 12433278, 12660822, 14672555, 15569978, 29865038, 30254471		★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	BEFREE	20486992		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	15298727, 17369505		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	28593993		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	39343816	Stimulate	★☆☆☆☆ Found in Text Mining only
Cleft Soft Palate	Cleft palate	Pubtator	23504914	Associate	★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial dysplasia	Pubtator	18203189	Associate	★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	BEFREE	29214672		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27029014, 31654269	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31868677	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	15292938, 16820088, 25076849, 33046033	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	27144525, 9625847		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10220498, 11232644, 11352600, 12970888, 15800322, 15860770, 16675157, 18931530, 20129840, 20473920, 21423154, 23010077, 25064638, 25879218, 26439130, 28463515, 9485004, 9731506		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	18555778	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11040180, 11584062, 16322687		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11040180, 11232644, 11696421, 15860770, 18767147, 19331161, 23310950, 30897785, 32420374, 32727450	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15059516		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10385139, 10461063, 10646864, 11106567, 11163104, 11208819, 11584062, 11677769, 11751682, 11801557, 11861396, 11932355, 12370819, 12406556, 12612901, 12631615, 12716465, 12792748, 12963980, 12973852, 14562378, 14598358, 14601048, 14719065, 14719111, 15375540, 15492837, 15492985, 15542810, 15545173, 15809712, 15967110, 16207479, 16352895, 16647956, 16675157, 16760277, 16760301, 16819711, 16872319, 17072968, 17339237, 17451198, 17474983, 17537196, 17970082, 18299982, 18327804, 18418463, 18481196, 18607552, 18813790, 18830187, 18951899, 19331161, 19779933, 20129840, 20346145, 20473920, 20549016, 20815811, 21039844, 21423154, 21617221, 22218684, 22219067, 22433385, 22449151, 22786759, 22925370, 22939228, 23034738, 23354547, 23703248, 23777425, 23805242, 23830381, 24065196, 24336114, 24410593, 24747207, 24979649, 25015728, 25076849, 25576161, 25943321, 26998585, 26999279, 27220764, 27976639, 28597080, 28617917, 28730335, 29388151, 29561443, 30348132, 30379684, 30483798, 30485512, 30738693, 30989570, 31004929, 8831691		★☆☆☆☆ Found in Text Mining only
Colorectal Mucinous Adenocarcinoma	Colorectal Cancer	BEFREE	16912910		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10639144, 11106567, 11232644, 11549606, 11819863, 12460469, 12499439, 12569385, 12716465, 12970888, 12973852, 14562378, 15122305, 15257310, 15476557, 15967110, 16207479, 16369045, 16407376, 16421593, 16475679, 16687485, 16760301, 16969349, 17065427, 17072968, 17167178, 17239930, 17307743, 17451198, 17461444, 17465256, 17474983, 17595762, 17970082, 18327804, 18418463, 18437011, 18451217, 18813836, 18834226, 19002263, 19290007, 19331161, 19690970, 19737982, 19761686, 20346145, 20543577, 20549016, 20572035, 20653064, 21037082, 21423154, 21455633, 22132162, 22218684, 22228178, 22449151, 22880157, 23128528, 23135763, 23326336, 23361049, 23845435, 24022192, 24065196, 24475022, 24500500, 24852431, 25076849, 25216220, 25576161, 25815725, 25879218, 25943321, 26363785, 27540971, 27756406, 27976639, 27978560, 29747501, 29869456, 30348132, 32271419, 34092617, 34629798, 35107499, 35321516, 35477541, 37845622, 37950153, 38078879, 38446659, 40065477, 9369933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12792748, 12963980, 14601048, 14719111, 15260847, 15809712, 16675157, 16760301, 17072968, 17461444, 17641414, 17970082, 18327804, 18418463, 18619950, 18830187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16760277, 18951899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17641414, 35429970, 36444588	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	19383812, 19690970, 28135145, 29791078, 38271656	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	17539963		★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	31325108		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10027410, 12796375, 16965949, 17440616, 17899364, 20444664, 22994265, 24134932, 28179162, 7651726, 7849311		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25536104		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	34608877	Associate	★☆☆☆☆ Found in Text Mining only
Congenital dyserythropoietic anemia	Congenital dyserythropoietic anemia	BEFREE	30876823		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	14695338		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	17989524, 19120359		★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	34779821	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	2292594		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15596059, 1662666, 16949731, 17451187, 18452812, 19246164, 19641369, 20861610, 21218461, 22521293, 24406044, 25853938, 27682877, 28337379, 28593993, 29135120, 31278395, 8824727		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	28192277	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	18340101, 19343170, 23199516, 24573017, 24930384, 26487755		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18340101, 19343170, 20173736, 21307941, 22706276, 22768093, 23086272, 23199516, 24930384, 25744911, 26487755, 28639227, 29308617, 30176239, 30814313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	19343170, 21307941, 21971053, 22706276, 22768093, 23091611, 23104008, 23199516, 24573017, 24725463, 28107200, 31653960, 34615528, 38003316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Autosomal Dominant 1	Coronary artery disease	Pubtator	22216278	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	18340101, 18599554, 21347282, 22152955, 22768093, 27594927, 37852142	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17478681, 18340101, 19343170, 21347282, 22152955, 23199516, 24930384, 26487755, 29285163		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	19214202		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	26138095		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	35707464	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23575333, 28411872, 30032288, 30056776, 30563755, 30989570		★☆☆☆☆ Found in Text Mining only
Cutaneous Malignant Melanoma 2	Malignant Melanoma	GENOMICS_ENGLAND_DG	20132244		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	10070944, 10229204, 10388473, 10396383, 10861313, 10869311, 10874641, 10922411, 11008905, 11118625, 11815963, 12072543, 12107107, 12175554, 12202501, 12438273, 12844286, 12853981, 12883368, 12925397, 14506702, 14719109, 15030338, 15305154, 15837753, 16174859, 16307646, 16331607, 16374456, 16896043, 17055252, 17063143, 17167857, 17171691, 17218939, 17414113, 17492760, 17624602, 18205010, 19077144, 19158841, 19360740, 19571771, 19626699, 20132244, 20574843, 20703244, 21051013, 21325014, 21412176, 21671477, 21693730, 21801156, 21895773, 22804906, 22841127, 23222549, 23384855, 23613284, 23990928, 24742402, 25236571, 25787093, 25803691, 27473757, 7666916, 7668266, 8562340, 8631588, 8751963, 9221801, 9389568, 9439668, 9536218, 9579564, 9724087, 9856796		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	CTD_human_DG	22080950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	2292594, 23316069		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	32792597	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	23273104		★☆☆☆☆ Found in Text Mining only
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency Of Glucose-6-Phosphate Dehydrogenase	BEFREE	12690301		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15026580, 17569750, 18276743, 28124466, 28436958, 30219053		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	29281874	Associate	★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	22726540	Associate	★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	31169567		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	12435851, 23185405, 23668904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	23185405, 30613983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	23185405, 29349527	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	23185405	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	40149491	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	37860000	Associate	★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	25852058		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	18373711		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	BEFREE	16620915		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	Pubtator	8933346	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17478681, 20616309, 21638130, 22558147, 25744911, 25990668, 26542317, 26873362, 27155872, 27486979, 29273724, 30599788		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25437179, 29544538	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	12753296	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	17463249, 18544707, 23197849, 26542317, 27486979, 30457165, 33490239	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17478681, 19390090, 20616309, 21638130, 22558147, 25744911, 25990668, 26542317, 26873362, 27155872, 27486979, 29273724, 30599788, 31687322		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37758806	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	31299986	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17463248, 18368387, 18426861, 18461161, 18469204, 18633108, 18694974, 18768588, 19033397, 19228808, 19324937, 19343170, 19401414, 19862325, 20142250, 20161779, 20424228, 20509872, 21103332, 21775993, 21968977, 22923468, 22961080, 23104008, 23134948, 23193118, 23382687, 23462794, 23670970, 24013783, 24376643, 24637646, 25273842, 25430018, 25587982, 26139146, 26290879, 26542317, 26873362, 27310578, 27377502, 29432124, 30728419, 32578971, 33203726	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22643932, 31299986		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17463246, 17463248, 17827400, 18162508, 18368387, 18461161, 18597214, 18633108, 18694974, 18991055, 19033397, 19225753, 19343170, 19741166, 19892838, 20161779, 20509872, 20580033, 21103332, 21625859, 21775993, 21968977, 22119613, 22377712, 22569928, 22623142, 23134948, 23298195, 23382687, 23448427, 23458876, 23532257, 24012816, 24093775, 24485399, 24637646, 25430018, 25744911, 25839936, 26139146, 26542317, 26873362, 26911676, 27155872, 27377502, 27488727, 28079868, 28868898, 29237539, 29432124, 30176239, 30728419, 31299695, 31721535		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	23755131		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	12753296	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12753296, 22643932, 28356293		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	18708411, 21569495, 26137587, 35435356, 36149153, 36444605, 37820765	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	23218882, 8822272		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	11303791, 26404554		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	10086736, 10557050, 10803523, 10809848, 11522621, 11756145, 12149228, 12393524, 15289870, 15832193, 15886317, 16406514, 16837630, 17454594, 19239430, 20332669, 20435884, 20846793, 21035853, 21638516, 22619049, 22742986, 22975378, 24449825, 24832791, 26498513, 26773040, 27102345, 27276707, 9531609, 9591637, 9616165, 9620022, 9736037		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	21325069		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	23661601	Inhibit	★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	15173226	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29968395, 30504774, 31350265		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34140950, 38513239	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	9570150		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11390512		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	24372672, 38530109	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	26334876, 28065479		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	26334876	Associate	★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	10630172, 11008905, 11815963, 12115352, 12296515, 12690301, 12783933, 15150307, 15724013, 16214921, 19484507, 22804906, 23711066, 23892592, 26892650, 28830827, 29507566, 9299424, 9439668, 9490270		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	15959912	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	38206516	Stimulate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	19723343	Associate	★☆☆☆☆ Found in Text Mining only
Empyema Pleural	Emphysema	Pubtator	17428253	Associate	★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	14991902		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	15474160, 16462152		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10071231, 10355753, 10408854, 10656444, 10682682, 12920579, 14648178, 15516847, 15723290, 16293976, 16619479, 17468517, 18790522, 20683407, 21851624, 25596080, 26283007, 27902476, 29451900, 30896884, 31028217, 7646759		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	10682682, 11818530, 15213599, 29250656		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	10682682, 21731750, 21920875, 30430425	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10682682, 11570574, 12920579, 16928264, 19347018, 19366452, 20173732, 20534993, 20683407, 21851624, 22027748, 22114462, 23361049, 23719407, 26132201, 27260518, 27902476, 30306731, 30430425, 30521558, 31028217, 32111808, 33109128, 33577492, 35796805, 36581816, 37723477, 37890416, 40090626	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17498885, 18199985, 18790522		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20015385, 34380970	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	30896884		★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	28982163		★☆☆☆☆ Found in Text Mining only
Endometrial stromal sarcoma, high grade	Endometrial Stromal Sarcoma	BEFREE	28982163		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	11163832, 16616093, 30946310, 35269619	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	12402310, 16462152, 30946310		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	16616093		★☆☆☆☆ Found in Text Mining only
Enteropathy-Associated T-Cell Lymphoma	Enteropathy-Associated T-Cell Lymphoma	BEFREE	14743509		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	35437997	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	10564531, 11763427, 12850376, 16051033, 16616114, 17206475, 20639864, 28548702, 7987828		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	38555263	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	26913849, 28439661		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	15373786	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	20044755	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11992549, 15350359, 17466040, 25972325, 28000027, 31659108		★☆☆☆☆ Found in Text Mining only
Epithelioid and spindle cell nevus	Spitz nevus	BEFREE	28362709		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	11417997, 17535296, 22825469, 26043844, 27770808, 29788963, 9133447		★☆☆☆☆ Found in Text Mining only
Erythema Nodosum	Erythema nodosum	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	19414370, 20163722	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11079730, 14633667, 16488074, 17650224, 19513816, 20459442, 24240582, 25361631, 28459370, 28529620, 28637022, 28693288, 29046713, 29113666, 29771415, 30952735, 7547637, 7614482, 7970734, 8012957, 8093026, 9934853		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Esophageal Diseases	Esophageal disease	Pubtator	35352503	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	11079730, 14633667, 16488074, 17650224, 20459442, 24240582, 25361631, 28459370, 28529620, 28637022, 28693288, 29046713, 29113666, 29771415, 30952735, 7614482, 7970734, 8093026, 9808520, 9934853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	11315260, 11815963, 12046062, 16163549, 17348438, 20388212, 21155014, 22219599, 22430803, 22726540, 23361049, 25280564, 25361631, 27893424, 29771415, 31923587, 34635759, 34663841, 36269225	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	15726543	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15824739, 17650224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	18410530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	UNIPROT_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	11079730, 11599796, 17094449, 17970080, 19137073, 20388212, 21150312, 21155014, 22450065, 22938432, 23244153, 23310950, 23448401, 25164462, 25239644, 25514805, 26386145, 26514506, 27414035, 27893424, 29866946, 30363984, 31851786, 33725708, 33826001, 34663841, 35352503, 37866660, 38445358, 9713590	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophagitis	Esotropia	Pubtator	22726540	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	10951342, 12963998, 15659501, 17533400, 18160777, 18701473, 21170084, 23628818, 25223734, 25464386, 27286459, 28681998, 9393981		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	11520274, 7791990		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	BEFREE	18509008		★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	10338331, 10400925, 10436789, 11815963, 12120226, 14584079, 14871223, 15516847, 18813118, 19360740, 26876133, 29541281, 31261289, 7640518, 7670475, 9389568		★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	ORPHANET_DG	19585149		★☆☆☆☆ Found in Text Mining only
Familial atypical multiple mole melanoma syndrome	Mole Melanoma Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cylindromatosis	Familial cylindromatosis	Pubtator	30717762, 33826001	Associate	★☆☆☆☆ Found in Text Mining only
Familial melanoma	Melanoma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	11016622, 15824739, 18831746, 19670330, 22450065, 23588239, 25460562, 26058606, 26068095, 26132201, 26192918, 30355311		★☆☆☆☆ Found in Text Mining only
Familial pancreatic carcinoma	Pancreatic Carcinoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fatty Liver	Fatty Liver	BEFREE	28286271		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	36072934	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28286271		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	15578730		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	16462152, 21498692, 22233735, 28340268, 28609585		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	18156978, 18162776		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	11719444, 21053367, 21263217		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12924440, 17117177, 9827724		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	9827724		★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	19435948	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	25311168		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	23132454	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	11584965, 15014024, 18081229, 21777578, 24114011, 30908307		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	BEFREE	15014024		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	18081229		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	15655836, 18081229, 18158568, 25066711, 26617872, 30908307, 33813726, 34970422	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	14629754, 17259542, 29880043		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	10861481, 16224217, 17981214, 30837539, 9139866		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastric Cardia Carcinoma	Gastric Cardia Carcinoma	BEFREE	21155014		★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	14976529, 22742986		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	11095446, 11479232, 25003221		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	18097597, 22558275, 9178679		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	22558275	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	18821580		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	24481601	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	12973852, 16163549, 22534780, 25417611	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	12721243, 16733203, 20872974, 21708825		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	12721243, 15181453, 15272528, 15929122, 16166437, 16733203, 18438954, 18547614, 18813351, 19887491, 20459531, 20571341, 20872974, 21237497, 26509911, 28028119, 28034324, 28270683		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	15181453	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	15701851, 17917670, 18813351		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	15929122, 18813351, 19585585, 20872974, 22666745, 28270683	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	11676855, 12823347	Associate	★☆☆☆☆ Found in Text Mining only
Genitourinary Cancer	Genitourinary Cancer	CTD_human_DG	17300232		★☆☆☆☆ Found in Text Mining only
Genitourinary Neoplasms	Genitourinary Neoplasms	CTD_human_DG	17300232		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	10786670, 12071636, 15734211, 9284835, 9554401		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	15507671	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	21155014, 29731755		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	25852058		★☆☆☆☆ Found in Text Mining only
Glandular Neoplasms	Glandular Neoplasms	BEFREE	12378514, 14501820, 24965111		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	21532571, 26365380		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	CTD_human_DG	21532571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	37345431	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Open Angle	Open angle glaucoma	Pubtator	29104244	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22521085, 24875940		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10359140, 10360478, 10536182, 10536183, 10564531, 10665922, 10667596, 10720483, 10896207, 10939591, 10949938, 11068994, 11303791, 11314047, 11355302, 11549271, 11556543, 11791179, 11908877, 12005388, 12173338, 12416540, 12503074, 12622447, 12907595, 14629754, 16102584, 16410744, 16568472, 16957578, 17273768, 17493032, 18095137, 18394558, 18506188, 18566217, 18948956, 18974105, 19424593, 19805356, 20822523, 21169405, 21553143, 21884817, 21987724, 22046342, 22086906, 22570167, 22994265, 23311918, 24398474, 24498027, 24614622, 24647572, 25277177, 25550546, 26059434, 26404554, 26757882, 26957305, 26993778, 27251041, 27936934, 28368403, 28526854, 29105198, 29150788, 29769617, 30200436, 30496796, 30535594, 30836703, 31206614, 31721021, 7497469, 7805033, 7987821, 7987828, 8526910, 8548755, 8552400, 8806696, 9000591, 9210874, 9217972, 9284834, 9334810, 9341929, 9600204		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10653004, 10665922, 11068994, 11303791, 12173338, 17493032, 18691268, 18816605, 19435819, 20406234, 20822523, 21365010, 21713760, 21884817, 22046342, 22086906, 22179774, 23412337, 23663786, 23762372, 24398474, 24498027, 24614622, 24804210, 25033601, 26452024, 26757882, 26839018, 27461656, 27502248, 28201779, 28526854, 29105198, 29454261, 30289729, 31285369, 31896544, 32516884, 32687679, 33009979, 33077924, 33692446, 33838014, 33876327, 34015961, 34997451, 35815721, 36055049, 36435047, 37420311, 38135704, 39489121, 7887443, 8764092, 9000591, 9217972	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18981259, 19478948, 27172220, 34496929	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	19086579		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10360478, 10536182, 10536183, 10720483, 10949938, 11029499, 11083071, 11314047, 11549271, 11556543, 11756757, 11791179, 11908877, 12005388, 12416540, 12503074, 12907595, 14629754, 16102584, 17273768, 17493032, 18095137, 18394558, 18566217, 18948956, 18974105, 19805356, 20643786, 21169405, 21553143, 21713760, 21987724, 22046342, 22086906, 22711607, 22994265, 24398474, 24498027, 24614622, 24647572, 25277177, 25550546, 26059434, 26404554, 26757882, 26957305, 26993778, 27251041, 27936934, 28368403, 29150788, 29247857, 29769617, 30200436, 30496796, 30535594, 30836703, 31206614, 7887443, 7987828, 8548755, 8857999, 9000591, 9217972, 9341929		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10446996, 10536182, 10589545, 10651484, 10797439, 10939591, 10949938, 11029499, 11485986, 11496313, 11572856, 11669337, 11791179, 11908877, 12086863, 12134905, 12173338, 12416540, 12589031, 12907595, 16247447, 17273768, 18406873, 18415661, 18472967, 19240607, 19578367, 19805356, 20455025, 20462933, 20569441, 20714943, 20847058, 21057530, 21356187, 21531766, 21754979, 21825990, 21843312, 21920947, 22015595, 23115063, 23161787, 24065197, 24184969, 25853694, 26124340, 26577493, 29100349, 29105198, 29719265, 30558563, 31721021, 7478535, 7585516, 7728764, 7775255, 7867008, 7887443, 7898625, 7954404, 8548755, 8552379, 8552400, 8649864, 8847566, 8895506, 9053859, 9216647, 9247304, 9366518, 9366522, 9815774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	11278920, 11572856, 12173338, 12698196, 14583787, 16247447, 16986124, 19578367, 20154338, 20462933, 20822523, 20847058, 21029244, 21356187, 21470325, 21843312, 22492957, 23115063, 23161787, 23280628, 24065197, 24398474, 24723567, 25563195, 25667294, 25853694, 25921285, 26681766, 26839018, 27165745, 28699883, 29272522, 29454261, 30558563, 31151164, 31428092, 31832685, 32516884, 33009979, 33077924, 34496929, 34712225, 35103816, 35649412, 36031351, 36053463, 36571817, 36648487, 37032198, 37138345, 37524847, 37574201, 37818686, 37910594, 37947008, 38109891, 38135704, 39963031, 40474207, 40649906, 40721593, 8878451, 9045893, 9284834	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	LHGDN	12698196, 16696307, 16786135, 18415661, 19086579		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CTD_human_DG	15814359, 19578367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	19718409, 7887443	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
gliosarcoma	Gliosarcoma	BEFREE	10666371, 26443480		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	10666371, 26443480, 31073965, 34504233	Associate	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	20642852	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28843833, 7424912		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	12872442, 28296059		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	14717921	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	16002406	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	14717921		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	10688850		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	36470572	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Slack Skin	Granulomatous Slack Skin	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	28476811		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	23104008		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	16723698	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	10092131		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	11463458, 7795238		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	15373786		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	8824721		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	10373639, 11439363, 12063558, 12101111, 12118338, 12148857, 16959885, 17152048, 17284367, 17360226, 20186832, 22106032, 22735904, 23444219, 23464408, 23805242, 24331868, 24633888, 24706381, 24710824, 24715244, 25331947, 25557267, 26657876, 26749143, 27644660, 27727063, 27930753, 28039610, 28230929, 28521311, 29215771, 29229598, 29878161, 30098776, 31662516, 9047388, 9150385, 9349503		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	10574255, 11207046, 16760277, 16948516, 17003776, 18178632, 20186832, 21063414, 22157933, 22430803, 22735904, 23444219, 24706381, 24710824, 24786473, 25331947, 26171937, 27246975, 27377733, 27893418, 28244466, 28258440, 29048728, 29229598, 30861166, 33068091, 35435356, 35491653, 36835246, 38147801	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	26400483	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	39329776	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22398292	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28980705	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	30070315		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	30070315	Associate	★☆☆☆☆ Found in Text Mining only
hemangiopericytoma	Hemangiopericytoma	BEFREE	8834533		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	11495043, 12019151, 22648906, 24747207		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	22310292	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	23599148, 26440310	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	10557050, 11189209, 11532526, 12213729, 12352668, 15370242, 16949174, 7544647, 7630199, 7833469, 8628020, 8724524, 9031104, 9041182, 9086436		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	12213729, 7632963	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	15370242		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	10335917, 14976529, 15634656, 23948297, 7632963, 8946928, 9209389, 9808523		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	28192277, 39510246	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24254306, 26339389	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	7606004	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	10793069	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	11171828	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	12748249, 28820908, 9537438		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	12117890, 12660822		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Types I and II	Hereditary angioedema	Pubtator	28658331	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	19450526, 21488187, 25064638, 30128536, 37706649, 9990866	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	24395243		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	18004740		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	17412760		★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	15365986, 21412176, 25152581, 7732591		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	BEFREE	10338331, 10380935, 10775844, 10978354, 11156381, 11237522, 11719444, 12019208, 12175554, 12352668, 12362978, 12494470, 12925390, 14745721, 15146471, 15304098, 15305154, 16169933, 16857415, 17505264, 17909018, 18612309, 18672145, 19011513, 19523171, 20132244, 20483645, 21085193, 21153565, 21801156, 21893440, 21923753, 22083977, 22198089, 22292911, 22841127, 23371019, 23392000, 23546221, 24652319, 24935963, 25023876, 25064638, 25236571, 25431349, 26542317, 26650572, 26892650, 27287845, 28146043, 28699883, 29405243, 29522175, 30274933, 30414346, 30731170, 31203567, 7624155, 7647780, 7670475, 7923152, 7987387, 7987388, 8570179, 8620534, 8710906, 8723678, 8751963, 8791272, 9036865, 9135995, 9258659, 9425228, 9479083, 9667525, 9694617, 9699728, 9856841		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	CLINVAR_DG	10389768, 10390011, 10398427, 10491434, 10498896, 10627132, 10719365, 10738302, 10861313, 10869234, 10874641, 10922411, 11319798, 11500805, 11556834, 11571653, 11595726, 11726555, 11807902, 12072543, 12352668, 12454511, 12700603, 12853981, 14508519, 14679123, 15009729, 15146471, 15150307, 15173226, 15235029, 15856016, 15860862, 15945100, 16169933, 16234564, 16307646, 16397522, 16893909, 16896043, 16905682, 17047042, 17055252, 17167857, 17171691, 17218939, 17440112, 17492760, 17624602, 17713569, 18023021, 18025365, 18337833, 18363633, 18843795, 18983535, 19260062, 19523171, 19571771, 19712690, 19759551, 19799798, 20093296, 20340136, 20340316, 20539244, 20653773, 20876876, 21150883, 21462282, 21619050, 21801156, 21893440, 22841127, 2319082, 23190892, 24659262, 24660985, 24935963, 25294512, 25356972, 25370744, 25780468, 25803691, 25877891, 26225579, 26650572, 26681309, 26892650, 27083775, 27287845, 27804060, 28592523, 28830827, 7647780, 7780957, 7923152, 7987387, 8570179, 8595405, 8603820, 8653684, 8668202, 8710906, 9328469, 9389568, 9416844, 9425228, 9439668, 9516223, 9699728, 9856841, 9916806		★☆☆☆☆ Found in Text Mining only
Hereditary Melanoma	Hereditary cutaneous melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Non-Polyposis Colon Cancer Type 2	Colorectal Cancer	BEFREE	7563391		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	15516847, 17278092, 19383812, 26440929, 27220764, 29791078		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	11815963, 32113160	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	24610350, 8834533		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	21699772		★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	BEFREE	10681729, 10793069, 9620022		★☆☆☆☆ Found in Text Mining only
Histiocytoma Angiomatoid Fibrous	Angiomatoid fibrous histiocytoma	Pubtator	35347249	Inhibit	★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	24471909		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10374887, 10574604, 10616196, 10848787, 10854221, 11042528, 12153002, 12213729, 17438182, 7544647, 7579381, 7632961, 9086436, 9309120, 9369426, 9531609, 9573674, 9620022, 9736037		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	11830490, 12213729, 19099554, 21174181, 24294363, 34807923, 39195213	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	11839577, 19099554		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	24742402, 33156570	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	2876628		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	15507671, 23065465	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	23065465		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	23900873	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	18163473		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	30508396	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	18466028, 26542317	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	15339339, 30803219, 31976596	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36862882	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16002749, 26944720, 30031694		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	31638980, 32513152	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	18633108	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	27902476	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26498684	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	9528826	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	24747207, 31186694, 31443718, 9582521		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30031694		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12169206, 22707614, 29541247, 31019774, 31687975		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	12169206		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	12169206, 30111332, 32851507, 33432658, 33705361, 35672770, 38215148	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27362652, 28860144	Stimulate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31654269		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	30070315		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29063720, 30989570		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40149491	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	28130839		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	11025365, 11479232, 17278096, 27085780		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16258260	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	9741467		★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Stenosis	Internal Carotid Artery Stenosis	BEFREE	24599170		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	17498290	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	32513152	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	24509200	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	18622497, 37845622	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	18997786, 22776031	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	22776031, 24938844, 27188739, 31325108		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	11289098, 12234999, 12861062, 15185075, 18284544, 18393368, 19671846, 20607682, 21569495, 22285991, 23494221, 23828315, 24984283, 28123559, 28365443, 28521400, 30249192, 31033795, 31617604		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	11034592, 15619210, 25289642, 27009864, 27622582		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	14534701, 17383681, 26125737, 28776573, 29936452		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	19559344, 22776031, 27773886, 27905995, 28716248, 29881905		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	14657708, 27664376, 31261289		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	15755284, 21681782		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	15525642		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	31680334		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	18163473, 22804352		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	20383119, 26319365	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	28410231	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	38527980	Inhibit	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	12153002, 12213729, 20118908, 21518927, 9531609		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12753296		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	17183247	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20225325, 20572035, 23310950	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	10775844, 10797439, 11255261, 11697625, 11704835, 11818530, 12117890, 12189502, 12375265, 12417717, 12538475, 12839954, 12924439, 14536079, 15029199, 15140233, 15492501, 15520276, 15520862, 15989956, 16166281, 16199529, 16322687, 16618932, 16697958, 17311533, 17374722, 17611415, 17630509, 17713569, 18765795, 19276382, 19372550, 19608668, 20663777, 20723236, 22046342, 23173060, 23851445, 24330849, 24552182, 26024833, 26351750, 26762127, 26918730, 28346462, 28671688, 28755953, 31312394, 9757829		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	10619963, 11159196, 26261480, 28593993, 7712460		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	11159196, 24970693, 35478773	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32111252	Inhibit	★☆☆☆☆ Found in Text Mining only
L2 Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	CTD_human_DG	20453839		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	11825926	Inhibit	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	15083191, 17641416, 28849066, 29034342, 34538114	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	10328220, 14991744, 15083191, 17328665, 18602381, 22996374, 23778529, 24374907, 25149524, 25536600, 25688737, 27377733, 27613249, 27751621, 28102032, 28861601, 29151940, 29446476, 29744637, 30134232, 30642220, 31566825, 9333020		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	12942572, 14595762, 22648906, 23178314, 28340268, 29189258		★☆☆☆☆ Found in Text Mining only
LAURIN-SANDROW SYNDROME	Laurin-Sandrow syndrome	BEFREE	31638980		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22233735	Stimulate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	25607395	Inhibit	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	32372565	Associate	★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	14595762, 16462152, 23240674, 24747207, 28130839, 28340268, 28609585, 31443718		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	LHGDN	18156978		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	20884963	Inhibit	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23178314, 23334251, 25607395, 26261614, 28283584, 33788262	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	28130839		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma, Myxoid	Leiomyosarcoma	BEFREE	27717885, 28130839		★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	22144494	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10634644, 10720483, 11755465, 14513284, 14640942, 15029199, 15147949, 15370242, 15634656, 16166769, 16315255, 16949174, 17507663, 18379362, 19737931, 21622646, 21670474, 22469984, 23292502, 23828551, 24330849, 24612037, 24810788, 27184773, 7577621, 7630199, 7632963, 7795238, 7849311, 7882348, 7919362, 7994022, 8547131, 8555068, 8603008, 8616035, 8618438, 8647524, 8689637, 8704231, 9031081, 9204978, 9258663, 9324288, 9402846, 9426690, 9639410		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11676855, 11750096, 18668134, 19737931, 22549447, 23828551, 24443786, 24528084, 34369425, 7795238, 7994022	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18551992		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	7919362, 9166859	Inhibit	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	12228235, 14536079, 7919362	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	16766511, 18519632, 18668134	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19144660, 19556423, 22581002, 24164743, 24528084, 38513239, 39473411, 7544647, 7632963	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19667402, 19748549, 20157576, 7919362	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	26720758	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	12899712	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	15813917		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10557050, 10634644, 10706859, 11064355, 11413509, 11697625, 11919388, 14513284, 14973498, 15972450, 16199529, 18551992, 18587015, 19626541, 19667402, 20157576, 20190193, 20699639, 23155234, 26728554, 29432785, 30401703, 7544647, 7577621, 7630199, 7718873, 7795238, 7919362, 8616035, 8618439, 8946928, 9402846, 9447829, 9808523		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12091906, 16199529		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	16104874		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	10378889, 10706122, 10803528, 15800668, 16052518, 19737931, 2787798, 6090008, 7742529, 8724524, 9164185, 9426690		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	18990760		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	LHGDN	18990760		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	30842161		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	10389970, 10484981, 15264268, 20039273, 21263217		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	ORPHANET_DG	28592523, 29263814		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Li-Fraumeni syndrome	Li-Fraumeni Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	12942572, 14595762, 22648906, 23178314, 28340268, 29189258		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	11120478, 11929827, 12183435, 12234999, 12543805, 14500697, 14586406, 15492849, 15689228, 17052587, 17893905, 18268126, 19431196, 21050803, 26137587, 28939073, 29037125, 31687322		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipoblastoma	Lipoblastoma	BEFREE	26514741		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	BEFREE	26514741, 29432785, 31387607		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	31387607	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple	Lipomatosis	BEFREE	26514741, 29432785, 31387607		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	LHGDN	18779733		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	19186005, 24747207, 26514741		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	23832711, 31387607, 31443718, 32175898, 35862385, 36464833, 37585199	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	19186005, 21910158, 26509911, 27597521, 28477272, 29432785, 30076191, 31443718		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	26514741		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	23918242		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	14695989, 19186005, 26514741, 27597521, 29432785		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10209942, 10374394, 10575317, 10897001, 10928081, 10952243, 11098088, 11171828, 11230735, 11286481, 11408803, 11704835, 11775834, 11776078, 11953887, 11982701, 12143052, 12168936, 12325038, 12433278, 12508357, 12565176, 12631605, 12660822, 12845670, 12949053, 12955883, 12960127, 14507645, 14966347, 15012776, 15044833, 15095848, 15168247, 15569978, 15661532, 15666088, 15706412, 16216419, 16254459, 16317707, 16343074, 16391877, 16461895, 16570275, 16646054, 16649250, 17016600, 17289889, 17534893, 17539963, 18350604, 18351580, 18358501, 18492017, 18632756, 18683194, 18691570, 18723830, 18949401, 19016326, 19070423, 19732323, 19813107, 20079733, 20112070, 20309945, 20569442, 20802412, 20971978, 21712406, 21799651, 21829019, 22192146, 22320884, 22860085, 22969091, 23392071, 23894465, 24254306, 24379610, 24400091, 24406287, 25169493, 26024833, 26165647, 27863477, 28928088, 28930859, 29019900, 29228217, 29516551, 29748662, 29896276, 29949741, 30143452, 30249208, 30254471, 30655841, 30773529, 30942220, 31206614, 31250364, 8760583, 8781327, 9049204, 9058294, 9185756, 9302564, 9407351, 9464511, 9472096, 9537438, 9873831, 9892188, 9893670, 9922321, 9989830		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12168936, 12949053, 15012776, 15168247, 16254459, 16649250, 18350604, 18358501, 18683194, 18723830		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	25822088, 28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11171828, 12143052, 12433278, 12660822, 14672555, 14966347, 15569978, 18691570, 20802412, 21799651, 28930859, 29865038, 30254471		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	11953887, 14966347	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11238187, 12660822, 15619210, 18949401, 19934271, 20569442, 25270420, 31206614, 9058294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	12378512, 16317707, 27064257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	31077599	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	15849750, 22134685, 23709347		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	22134685, 25064638, 32618129	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	30111332, 35672770	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	10365910, 11414196, 11641784, 11872642, 11920642, 12898597, 12918069, 14719111, 15073103, 15455389, 15578700, 16482519, 16533425, 16705183, 16860786, 17019711, 17140695, 17973238, 19118009, 20407446, 22217548, 26674347, 30655885, 31157548, 9032263, 9731504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	10469971, 10535995, 11414196, 12169206, 15481085, 15976342, 16533425, 17876837, 18332107, 18449464, 18751376, 19181417, 19375815, 19472407, 19525976, 20073072, 20082263, 20360128, 20565749, 20811718, 21413159, 22134685, 22146010, 22818553, 23237220, 23614702, 23709347, 24302179, 26647789, 26674347, 27716889, 29667179, 30516882, 31017733, 31340547, 31652270, 31662516, 32578376, 33219256, 33287451, 34257703, 34488370, 36269225, 36380607, 36618318, 39205175	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	11872642, 12115568, 18337602, 20135361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	11960384, 12169206, 12918069, 14985402, 15254707, 15455389, 16222700, 16533425, 16828922, 17393105, 17575133, 17936562, 18243403, 18949413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	14693837, 18379362, 19478948, 20407446, 33155773	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	UNIPROT_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25986394	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28471483	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	22820504, 2292594, 31419476		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	11843312, 20572035, 22114462, 22588195, 22695536, 22786759, 23448401, 23497965, 24752007, 24817951, 26881928, 27072243, 27411473, 31492932, 31662516, 32032442, 34972731, 35718445, 37314514	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16127777, 16390235, 17970080, 22860091, 22948376, 25890228, 26125737	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17970082, 37652496	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	18577984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	CTD_human_DG	29426936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoid leukemia	Lymphoid leukemia	BEFREE	11118035, 11441822, 14536079, 21622646, 7882348, 7919362		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	LHGDN	14536079		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10477703, 10541553, 10803523, 10854221, 10976700, 11121148, 11522621, 11676855, 11719444, 11908870, 12040438, 14743509, 15370242, 15611658, 15649253, 16169462, 16330669, 17052484, 18311490, 18820662, 21638516, 23292502, 26498513, 30836703, 7536040, 7632961, 7742527, 7849311, 7882348, 8637248, 8946928, 9031081, 9258663, 9515810, 9531609, 9591637, 9620022, 9736037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	Pubtator	10477703, 10520030, 10848787, 10854221, 11121148, 14536079, 15832193, 16369970, 21088137, 24815991, 26702065, 28002793, 30723112, 33509441, 34448823, 34576156, 35142151, 36402300, 37495858, 37975847, 38460675, 7632961, 8652807, 8698617, 9531609, 9546285, 9616165	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	Pubtator	10793069, 9736037	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	LHGDN	11804283, 15649253, 17428253		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	CTD_human_DG	9488045		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma Follicular	Lymphoma	Pubtator	11756183, 24388756, 24832791, 27750045, 30446494, 9531609	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	9736037	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma Primary Cutaneous Anaplastic Large Cell	Primary cutaneous anaplastic large cell lymphoma	Pubtator	11121148	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Primary Cutaneous Anaplastic Large Cell	Primary cutaneous anaplastic large cell lymphoma	Pubtator	20118908	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	10557050, 10681729, 17374722, 17495976, 17900658, 18828156, 24388756, 24449825, 24832791, 27102345, 28730642, 31631728, 9531609, 9616165, 9639423, 9736037		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	17900658		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	7579381, 7849311		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11021747, 11189209, 11874489, 30020823, 7579381, 7670111, 7849311, 8547074, 9067584, 9591637, 9736037		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	11874489, 7579381, 7849311, 9067584, 9591637, 9736037		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	15531468, 15897551, 20118908, 26872600, 30307677		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CTD_human_DG	26192916		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10793069		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	10793069	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	25523612, 9326203	Associate	★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	17278092, 19383812, 26440929, 27220764, 29791078		★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	29168048		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	23185405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	23185405, 23668904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	25728247		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	10958872, 12368906, 18481196, 24884915, 25028366, 28477272		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	10748288, 17094467, 22648906, 24747207, 31443718		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	LHGDN	17094467		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	10446996, 10536183, 10541865, 10949938, 11485986, 11563632, 12086863, 12883667, 15067344, 15679305, 16786135, 21843312, 25667294, 25921285, 27713119, 30972500, 7987825, 8895506, 9053859, 9216647, 9916925		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	15814359, 19578367		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	10373639, 11439363, 12063558, 12101111, 12118338, 12148857, 16959885, 17152048, 17284367, 17360226, 20186832, 22106032, 22735904, 23444219, 23464408, 23805242, 24331868, 24706381, 24710824, 24715244, 25331947, 25557267, 26657876, 26749143, 27644660, 27727063, 27930753, 28039610, 28230929, 28521311, 29215771, 29229598, 29878161, 30098776, 31662516, 9047388, 9150385, 9349503		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	11688461, 15781632, 16258956, 17900658, 26022239, 8978301, 9531609		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	17900658		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	BEFREE	20881029		★☆☆☆☆ Found in Text Mining only
Malignant Meningioma	Malignant Meningioma	BEFREE	11958372, 17924978		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	12117769, 12399123, 12589646, 12659954, 16965949, 17636483, 19396864, 21526190, 22223137, 23677068, 24081673, 24491449, 25889843, 26448191, 26463840, 26891694, 27079839, 27121152, 29076876, 29565815, 29656754, 29904909, 30113886, 30885529, 31231127, 7494231, 7630635, 7923195, 9466670		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	19223589, 21526190, 29112861		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	25972325, 31713897		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	22733721		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	15144691, 16860786		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	8847566		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10376981, 10397273, 10914724, 10922411, 10960771, 11007034, 11023200, 11062467, 11163109, 11336244, 11369056, 11494155, 11518467, 11880707, 12200117, 12438261, 12579530, 12810676, 14534701, 15122588, 15138605, 15205322, 15252852, 15450420, 15578730, 15879498, 16897432, 16919268, 16988943, 17016600, 17061045, 17624602, 17899364, 18006786, 18174243, 18245468, 18507837, 18519679, 18593338, 18703154, 18714178, 18725978, 19125298, 19130492, 19477956, 19571771, 19657672, 19921426, 20056647, 20081803, 20093296, 20513530, 20568901, 20614030, 20661408, 21320484, 21488187, 21710692, 21868547, 22824969, 22833492, 22860097, 23238983, 23336272, 23593120, 23645774, 23712779, 23967281, 24120666, 24146864, 24956567, 25064638, 25239644, 25264199, 25344837, 25684485, 25955758, 26125737, 26339389, 26751376, 26927017, 27517156, 27688086, 27835607, 28068434, 28068628, 28243323, 28276595, 28412731, 28445153, 28551632, 29110637, 29388151, 29634384, 29708279, 29868468, 29904067, 29915929, 30003738, 30039340, 30086788, 30362613, 30457165, 30478914, 30572486, 30776589, 30896874, 30941950, 31572679, 31721206, 7547249, 7591270, 7796417, 8824556, 9570150, 9816158, 9862580, 9892114		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20948315		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10682682, 12920579, 14648178, 15723290, 16619479, 21851624, 30896884, 31028217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10755387, 11023200, 11079730, 12592219, 14633667, 16488074, 17650224, 20459442, 22973996, 24240582, 25361631, 28258440, 28459370, 28529620, 28637022, 28693288, 29046713, 29113666, 29771415, 30952735, 7614482, 7970734, 8093026, 8595411, 8988838, 9212218, 9934853		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	18410530		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	11584965, 14527906, 15014024, 18081229, 21777578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	8724524		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15289362, 17201148		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	15083191, 17328665, 19690981, 28849066, 29446476, 30873218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11238187, 16317707, 19934271, 29228217, 30509095, 30773529, 8760583, 9873831, 9892188		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	12378512, 16317707, 27064257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10037171, 10063314, 10213214, 10365910, 10469971, 10735505, 10986054, 11106248, 11280771, 11374847, 11414196, 11445839, 11550279, 11589304, 11753657, 11872642, 11956078, 11956099, 12101420, 12115568, 12169206, 12362273, 12379883, 12399123, 12417040, 12802286, 12918069, 12930158, 12970072, 15266335, 15455389, 15814621, 15849750, 15911247, 16004934, 16152615, 16157195, 16166426, 16222700, 16278393, 16337111, 16613540, 16828922, 16912209, 17575133, 17876837, 17923752, 17936562, 18006804, 18347195, 18379362, 18406873, 18550205, 18751376, 18949413, 19000069, 19375815, 19525976, 19641316, 19787276, 20360128, 20444664, 20565749, 20811718, 21164364, 21229606, 21447152, 22134685, 22146010, 22154617, 23010077, 23111194, 23276293, 23358651, 23709347, 23761220, 24077454, 24154929, 24618618, 25069886, 25239644, 25331797, 25966845, 26647789, 26674347, 27072261, 27391317, 27716889, 28202526, 28977861, 29541247, 29667179, 31019774, 31157548, 31652270, 31662516, 7551956, 7563154, 7566983, 7591275, 7614457, 7834618, 7834619, 7882351, 7936665, 8589032, 8621224, 8631583, 8988029, 9032263, 9066685, 9139845, 9464545, 9484839, 9508209, 9614442, 9625844, 9645340, 9673367, 9731504, 9751761, 9816033, 9816274, 9858892, 9873831, 9891228, 9891478		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	11872642, 12115568, 18337602, 20135361		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	11120478, 12183435, 12234999, 12543805, 14500697, 14586406, 15492849, 16791592, 17052587, 17893905, 18268126, 19431196, 21050803, 26137587, 28939073, 29037125, 29312616, 31687322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	24991542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	17016600, 23289480, 25640361, 29664911, 30029797, 30882625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	17236202, 20697079, 21467228, 21542673, 23634887, 24104554, 24331868, 24706381, 25380690, 25439690, 25503184, 25619363, 25687724, 26059208, 26152733, 27209505, 27474125, 27727066, 27913709, 28663082, 29100700, 29344081, 29493423, 29878161, 29936482, 30310820, 30877351, 30913305, 30987261		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10355753, 10471040, 11410518, 11780367, 11992549, 16000597, 18481196, 20603238, 21728901, 22344043, 23225431, 23572389, 27572321, 27648827, 28000027, 28521400, 29435063, 29662608, 30128536, 7591208, 7743516, 9036870, 9052747, 9115583, 9159345, 9231912, 9495360		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10436789, 10445844, 10632358, 10719365, 10861313, 10956390, 11075991, 11283541, 11313791, 11753042, 11792751, 11948142, 12079267, 12120000, 12120238, 12454511, 12802288, 12935400, 14679123, 14749618, 15133762, 15146471, 15264268, 15309028, 15336553, 15662124, 15832197, 15979573, 16127777, 16397522, 16481301, 16818496, 16893909, 16905682, 17047042, 17106238, 17505013, 17630509, 17659731, 17696250, 18299477, 18337498, 18577984, 19360740, 19417680, 19751883, 20195775, 20665497, 21150883, 21507037, 21614589, 22049925, 22113502, 22213426, 22636603, 22753594, 22806240, 22841127, 22846737, 23382133, 23393682, 23980075, 24652319, 24976721, 24986516, 25003221, 25071014, 25152585, 25227142, 25461770, 26337759, 26338139, 26787508, 27449771, 27486979, 27804060, 28325302, 28373361, 28475592, 29254312, 29543703, 29769629, 29922827, 30992552, 30999302, 31203567, 7666916, 7845688, 8620534, 8640773, 9046882, 9364657, 9735394		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	10627132, 26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	23998425, 26762611, 29987099, 30312320, 31032357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10353729, 10383161, 10766342, 10797499, 10854145, 11025389, 12169393, 15026333, 16170165, 16648113, 18225581, 20832018, 21912429, 23449888, 23585871, 25906117, 26198641, 26337231, 26416059, 26691865, 26847530, 27444279, 29185453, 29561434, 30161002, 30568225, 30677079, 31111520, 7559077, 8679444, 9006095, 9122044, 9171999, 9815578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	11078762, 16251483, 17207529, 17295241, 18070208, 18219279, 21986889, 24742402, 25943250, 28584022, 9299424		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10495421, 10705239, 11477571, 11819820, 12145426, 12469165, 12632489, 12632490, 12632492, 12824886, 12890389, 14733783, 16224217, 16619489, 17139167, 17438355, 18008030, 18622497, 19034663, 20637757, 20683001, 21849808, 22126203, 22228973, 22328012, 22936446, 23175521, 23201008, 23504555, 24610350, 24817951, 25693938, 25882375, 25890171, 29131253, 8957063, 9139866		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16290057, 16889486, 17195959, 26514498, 31467231, 8561866, 8822272, 8957499, 9808321		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	23342257, 25339028, 28669249, 31066593		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10022125, 10938379, 10945601, 10958872, 11205911, 11223676, 11410506, 11948103, 12372886, 12477660, 12532425, 12538475, 12853838, 15041703, 15161057, 15492852, 15507675, 15589816, 15821584, 15897688, 15987713, 16100943, 16316628, 17021825, 17119258, 17612565, 20683150, 20800513, 23083854, 24459064, 24675970, 25239644, 25955758, 27167196, 27429046, 27573859, 28445934, 29642177, 30149755, 30446453, 31028457, 7563186, 7577470, 7585472, 7747814, 7834615, 8541841, 8635161, 8747595, 8900425, 9171998, 9221807, 9334586, 9436977, 9515812, 9850064		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	12973940, 15987713		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10037301, 10072356, 10319873, 10355753, 10359140, 10360377, 10388473, 10427138, 10435615, 10443678, 10470133, 10484981, 10492069, 10535995, 10557050, 10632358, 10688850, 10705239, 10816133, 10854145, 10918395, 10928172, 10932211, 10947944, 10958872, 11034592, 11038348, 11154239, 11163104, 11205911, 11208819, 11237522, 11283541, 11285401, 11309270, 11309512, 11325039, 11351270, 11369056, 11369633, 11410326, 11544530, 11555154, 11567230, 11595705, 11706079, 11713309, 11713576, 11720478, 11756559, 11801303, 11809677, 11876522, 11932355, 11960696, 11986936, 12005253, 12019151, 12082630, 12117890, 12145426, 12149228, 12153002, 12183435, 12185367, 12224024, 12352668, 12372886, 12406556, 12461329, 12477660, 12612901, 12696062, 12716465, 12738733, 12792810, 12802286, 12890389, 12907744, 12924440, 12970781, 14506638, 14536079, 14648178, 14702190, 14719111, 14981901, 14991902, 15112280, 15120668, 15138605, 15150445, 15161007, 15173226, 15181453, 15207713, 15237234, 15492292, 15495191, 15516847, 15520276, 15557799, 15578730, 15590562, 15664344, 15750619, 15757481, 15781639, 15796777, 15832193, 15837753, 15849750, 15901131, 15913553, 15940643, 15950811, 15998377, 16000597, 16081515, 16115911, 16174859, 16242928, 16247447, 16251483, 16289646, 16322687, 16352895, 16373701, 16395703, 16540490, 16572177, 16608795, 16687485, 16791592, 16803511, 16855788, 16931583, 16949731, 16984510, 16998595, 17016600, 17021825, 17034532, 17055429, 17061045, 17079443, 17145814, 17326708, 17344414, 17351674, 17363525, 17374722, 17489980, 17517036, 17525529, 17573882, 17596760, 17606714, 17630509, 17654117, 17659731, 17665255, 17671189, 17713536, 17970082, 18006786, 18025917, 18234280, 18328560, 18347195, 18379362, 18509008, 18703154, 18843795, 18931530, 18981015, 19011513, 19013273, 19034663, 19047137, 19078924, 19100258, 19200577, 19360740, 19401813, 19443408, 19523712, 19618401, 19690981, 19795456, 19799643, 19805356, 19851859, 20016279, 20046837, 20068151, 20157576, 20340136, 20360128, 20385357, 20388212, 20484992, 20548956, 20551323, 20565749, 20569236, 20603238, 20661408, 20687502, 20723236, 20848441, 20881900, 20930544, 20971978, 21053367, 21297668, 21447152, 21467644, 21518927, 21526190, 21569495, 21570156, 21594579, 21619050, 21681144, 21717460, 21881028, 21933584, 22020333, 22070675, 22072122, 22126564, 22207527, 22429295, 22440936, 22510280, 22534780, 22580456, 22623710, 22684221, 22860097, 22949073, 22960768, 23010077, 23065809, 23225431, 23308265, 23317548, 23371019, 23412789, 23497965, 23571474, 23613284, 23680149, 23737140, 23805242, 23817020, 23851489, 23872714, 24020724, 24037287, 24046371, 24076770, 24105727, 24134932, 24136988, 24146864, 24282525, 24307551, 24331868, 24449825, 24470584, 24477172, 24479804, 24503757, 24664538, 24675970, 24690081, 24798431, 24821878, 24853183, 24893334, 24908414, 24991542, 25064638, 25069600, 25264199, 25439690, 25455689, 25485910, 25523612, 25550505, 25550546, 25613731, 25695927, 25723571, 25728247, 25835498, 25943250, 26068095, 26125737, 26137587, 26138095, 26183406, 26291840, 26302802, 26416059, 26448191, 26457819, 26514498, 26527286, 26592237, 26647789, 26674347, 26687648, 26785143, 26802432, 26833333, 26872600, 26876133, 26881928, 26900815, 26912361, 26986751, 27079839, 27184773, 27287845, 27428416, 27444279, 27454293, 27462786, 27470213, 27566570, 27572316, 27572321, 27740615, 27768738, 27770808, 27793846, 27835607, 27902476, 27902704, 27926776, 27956521, 27960642, 28002793, 28042030, 28262675, 28466822, 28477272, 28529622, 28609585, 28617556, 28637022, 28975663, 28985506, 29063720, 29069809, 29112861, 29131258, 29133799, 29162510, 29168898, 29185453, 29215650, 29240242, 29290766, 29308617, 29388151, 29435940, 29446543, 29468548, 29496665, 29522175, 29561434, 29642177, 29661169, 29665672, 29728850, 29748384, 29802154, 29904909, 29924765, 29966311, 30020823, 30087655, 30098776, 30136875, 30275203, 30307677, 30348132, 30410866, 30415992, 30445229, 30545241, 30569945, 30594962, 30684556, 30711015, 30731170, 30747478, 30774116, 30836703, 30847303, 30896884, 30992552, 31014281, 31111520, 31138176, 31189690, 31193718, 31240514, 31433975, 31546150, 31592814, 31652270, 31659108, 31689859, 7478535, 7547637, 7563154, 7563186, 7563391, 7566978, 7585513, 7606716, 7614457, 7624129, 7632961, 7632963, 7640518, 7705923, 7743516, 7833469, 7834618, 7845688, 7849311, 7882348, 7898924, 7936665, 7972006, 8521414, 8555065, 8597035, 8630967, 8637234, 8650244, 8674033, 8689636, 8703847, 8934532, 8939849, 8946928, 9000591, 9086436, 9098651, 9115582, 9115583, 9132280, 9149259, 9159345, 9178679, 9187111, 9221801, 9231912, 9309118, 9328469, 9389568, 9401081, 9407351, 9417860, 9436977, 9438603, 9439668, 9454653, 9464545, 9473234, 9495360, 9537438, 9554401, 9563903, 9622062, 9694617, 9731506, 9751761, 9789064, 9792305, 9815612, 9815833, 9816158, 9834265, 9858892, 9862580, 9873831, 9890173, 9973200		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	11544531, 19223589		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	10469453, 10595915, 10595918, 11406645, 12152785, 14519636, 15207265, 15715079, 15715087, 16510576, 16540739, 18803326, 20229272, 21196210, 21262917, 23321323, 24747207, 25240281, 25367955, 26191206, 26740486, 28124441, 28551330, 28646022, 28903419, 30306639, 31107719		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	11720478, 12752119, 14991744, 16552541, 16699496, 20217582, 21427726, 21990227, 22207527, 24021343, 24710824, 25640361, 26183400, 29548481, 30548235, 30594962, 8988838, 9676844		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	10211947, 14506638, 15073118, 15998377, 16494930, 16633071, 17294450, 17359536, 17369842, 17596760, 18232003, 18842994, 18936966, 18958930, 19468254, 19843667, 19941372, 20217582, 20829441, 20926123, 20937225, 21567202, 21674126, 22072122, 23494221, 23505442, 24714974, 25579180, 25910412, 27344169, 27401842, 27458253, 27644676, 27669738, 27761872, 28341182, 28453456, 28521400, 28617556, 29023464, 29168898, 30150594, 31014281, 31423197, 9698478		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10220498, 11232644, 11352600, 12970888, 15161007, 15800322, 16675157, 18931530, 20129840, 20473920, 21423154, 23010077, 25064638, 25879218, 26439130, 7553622, 9731506		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Vaginal Neoplasm	Malignant Vaginal Neoplasm	BEFREE	25319982, 30561092		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	28230929		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20948315		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11869517, 12200117, 14729628, 15450420, 15879498, 16766534, 17061045, 18239974, 18245468, 18714178, 18807517		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12579530, 17061045, 17440112, 19657672, 22751126, 24648416, 27102007, 29868468, 7889533, 9816158, 9888465		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20948315		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20948315		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	11289106, 11688461, 15781632, 16155021, 16183118, 16258956, 16636107, 17900658, 18391076, 19594747, 26022239, 29755111, 8978301, 9377576, 9531609		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	19174606		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	12692837, 15800322, 19761686		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	27333655	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	12097277, 26718898		★☆☆☆☆ Found in Text Mining only
Medullary Neoplasms	Medullary Neoplasms	CTD_human_DG	24098593		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10484981, 11526488, 12684707, 14688019, 15029256, 16623784, 17206475, 17510426, 17592618, 19806481, 22574128, 7987828		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	15029256, 38289501	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	16623784		★☆☆☆☆ Found in Text Mining only
Megaesophagus	Megaesophagus	BEFREE	19414370		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	10417291, 11507043, 11876522, 12406345, 12459645, 12799637, 15009715, 15724013, 16214921, 16917802, 17063143, 17578512, 18028495, 21336261, 21550132, 23065465, 26613644, 26876133, 28830827, 29507566, 30178478, 30791119, 9620301, 9664149		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	LHGDN	18337833		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus syndrome congenital	Melanocytic nevus	Pubtator	37235909	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10037301, 10067984, 10070944, 10086446, 10229204, 10338330, 10338331, 10380935, 10380936, 10389768, 10390011, 10396383, 10398427, 10400925, 10417291, 10436774, 10436789, 10465584, 10490845, 10498896, 10575157, 10596908, 10620109, 10620111, 10630172, 10651484, 10688850, 10719365, 10732752, 10738302, 10775844, 10775848, 10797439, 10828006, 10874641, 10922411, 10951521, 10966854, 10978354, 10987867, 10999737, 11008905, 11104570, 11113097, 11122857, 11156381, 11205230, 11221509, 11221846, 11243640, 11319798, 11325039, 11407950, 11431374, 11433531, 11477665, 11479422, 11500805, 11500806, 11507043, 11511314, 11518711, 11544530, 11556834, 11571653, 11579459, 11595726, 11595880, 11602203, 11668523, 11687599, 11719444, 11726555, 11756559, 11807902, 11828261, 11857391, 11874489, 11876522, 11897551, 11900878, 11966726, 12001124, 12019208, 12072543, 12107107, 12115352, 12175554, 12202501, 12296515, 12362979, 12406321, 12406345, 12438273, 12454511, 12459643, 12459644, 12459645, 12461329, 12494470, 12497626, 12538475, 12556369, 12561040, 12690301, 12700603, 12731669, 12777976, 12783933, 12789280, 12789286, 12799637, 12853981, 12875987, 12883368, 12904177, 12925390, 12925397, 12950144, 14506702, 14508519, 14559981, 14584079, 14642927, 14646619, 14646620, 14679123, 14719109, 14722037, 14735200, 14745721, 15075790, 15120668, 15122588, 15128789, 15150307, 15173226, 15221796, 15252852, 15298727, 15304098, 15304099, 15305154, 15389561, 15492837, 15529312, 15547691, 15577313, 15657897, 15705881, 15724013, 15761864, 15837753, 15846097, 15860862, 15879498, 15883616, 15913553, 15937071, 15945100, 15951821, 16032697, 16169933, 16172233, 16189525, 16214921, 16234564, 16307646, 16331607, 16354196, 16374456, 16397522, 16419059, 16462187, 16470311, 16618869, 16720371, 16759158, 16845325, 16893909, 16896043, 16905682, 16916716, 16917802, 16977458, 16988943, 17001621, 17047042, 17055252, 17063143, 17171691, 17196510, 17218782, 17218939, 17255954, 17295241, 17351674, 17397031, 17414113, 17438182, 17440112, 17450523, 17492760, 17505264, 17535228, 17602087, 17624602, 17625456, 17630509, 17992122, 18006687, 18023021, 18025365, 18025917, 18028495, 18070208, 18177469, 18178632, 18299477, 18335566, 18394881, 18398432, 18402768, 18406873, 18460031, 18505964, 18559569, 18612309, 18714178, 18795926, 18843795, 18953432, 18981015, 18983535, 19011513, 19077144, 19095153, 19149898, 19150414, 19158841, 19179113, 19238106, 19260062, 19265718, 19278751, 19287961, 19320745, 19339902, 19360740, 19398955, 19422607, 19464594, 19484507, 19523171, 19571771, 19585149, 19712690, 19751883, 19799798, 20068151, 20093296, 20132244, 20140953, 20189796, 20195775, 20340136, 20404912, 20484992, 20526219, 20569441, 20629734, 20653773, 20687502, 20697345, 20703244, 20711233, 20876876, 21051013, 21150883, 21203491, 21218461, 21244382, 21307304, 21325014, 21336261, 21412176, 21507037, 21550132, 21570154, 21570156, 21614589, 21671477, 21693730, 21796622, 21801156, 21895773, 21923753, 21926416, 21993556, 22083977, 22250051, 22292911, 22475760, 22534780, 22621339, 22636603, 22693259, 22804906, 22841127, 22872574, 22978401, 22997239, 23035722, 23222549, 23303449, 23371019, 23382133, 23384855, 23392000, 23613284, 23650282, 23661601, 23816148, 23851445, 23875803, 23892592, 23897584, 23990928, 24019069, 24037523, 24241239, 24258989, 24322567, 24395243, 24451276, 24471909, 24652319, 24659262, 24686846, 24721441, 24742402, 24884915, 24935963, 24949998, 24984283, 25023876, 25064638, 25189354, 25200134, 25227142, 25236571, 25252692, 25370744, 25407517, 25497382, 25584893, 25588041, 25592620, 25647737, 25687217, 25803691, 25822116, 25943250, 26110554, 26225579, 26251183, 26386262, 26433962, 26527286, 26559571, 26565903, 26581427, 26613644, 26650189, 26650572, 26681309, 26766120, 26775776, 26800492, 26810603, 26876133, 26909863, 26999380, 27181379, 27218826, 27287845, 27461581, 27473757, 27476724, 27569296, 27579522, 27713119, 27804060, 27855847, 27872202, 27997910, 28192409, 28263969, 28463841, 28818438, 29215650, 29216274, 29349527, 29374752, 29385581, 29417221, 29507566, 29542807, 29543703, 29706638, 29771690, 29774366, 29917141, 29924249, 29990501, 30039340, 30117292, 30178478, 30207590, 30208166, 30274933, 30370527, 30414346, 30566178, 30586141, 30666677, 30731170, 30791119, 30820946, 30992552, 30999302, 31001908, 31203567, 31261289, 31326397, 31371819, 31382929, 31567591, 7478563, 7561170, 7579825, 7585472, 7585628, 7624155, 7640518, 7647780, 7652577, 7668266, 7670475, 7700630, 7743501, 7747814, 7881419, 7882274, 7923152, 7987388, 8562340, 8564976, 8570179, 8595405, 8611425, 8631588, 8653684, 8707401, 8710906, 8727306, 8751963, 8834170, 8873047, 8895759, 8917541, 8968104, 8970585, 8977549, 9013477, 9036865, 9037560, 9046882, 9097983, 9135995, 9168184, 9204956, 9221801, 9247305, 9258659, 9299424, 9328469, 9353252, 9354451, 9389568, 9416844, 9425228, 9426066, 9439668, 9462707, 9469357, 9479083, 9490270, 9516223, 9536218, 9579564, 9598804, 9617435, 9620301, 9622062, 9664149, 9694617, 9699728, 9724087, 9796732, 9806478, 9810513, 9839807, 9856796, 9856841, 9916806, 9920427		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Melanoma	Pubtator	10390011, 10400925, 10417291, 10620109, 10620111, 10732752, 10869234, 11104570, 11243640, 11500805, 11500806, 11506491, 11511314, 11518711, 11556834, 11687599, 11815963, 11828261, 11874489, 12001124, 12107107, 12115352, 12406345, 12454511, 12799637, 12875987, 12910525, 12950144, 14584079, 14679123, 14695333, 14735200, 15128789, 15173226, 15298727, 15304098, 15304099, 15529312, 15819981, 15879498, 15937071, 16001072, 16234564, 16354196, 16374456, 16374457, 16397522, 16470311, 16880792, 16905682, 17035234, 17218782, 17218939, 17255954, 17488338, 17713569, 18025365, 18178632, 18335566, 18394881, 18612309, 18795926, 18803811, 18843795, 18953432, 19149898, 19265718, 19799798, 19884546, 20068151, 20360128, 20404912, 20484992, 20653773, 20703244, 20876876, 21085193, 21108607, 21150883, 21307304, 21325014, 21336261, 21570154, 21614589, 21671477, 21801156, 21926416, 21983785, 22311377, 22534780, 22849563, 22978401, 23178718, 23222549, 23303449, 23361049, 23555101, 23816148, 23892592, 23990928, 24322567, 24505435, 24616037, 24686846, 24742402, 24884915, 25064638, 25236571, 25370744, 25393105, 25407517, 25592620, 25822116, 26111702, 26433962, 26498684, 26503349, 26559571, 26681309, 26810603, 26909863, 27181379, 27476724, 27579522, 27776349, 27804060, 27855847, 27872202, 27883322, 27890785, 28146043, 28283772, 28699883, 28830827, 28903138, 29215650, 29216274, 29349527, 29385581, 29405243, 29522175, 29523635, 29542807, 29661971, 29706638, 29774366, 29924249, 29990495, 30038052, 30207590, 30291219, 30414346, 30451293, 30657954, 30731170, 30791119, 30835257, 30992552, 30999302, 31001908, 31203567, 31326397, 31371819, 31382929, 31630191, 31923587, 31980996, 32067956, 32114459, 32196516, 32283231, 32415830, 32455486, 32482799, 32643855, 33077847, 33102592, 33322357, 33627666, 33871399, 33910831, 33917086, 33945383, 33982545, 34607836, 34711012, 35179177, 35357426, 35552752, 35723634, 35777164, 35871080, 35904890, 36156317, 36261329, 36269225, 36939129, 37130203, 37235909, 37958811, 38070141, 38134090, 38138255, 7666916, 7747814, 8611425, 8710906, 8751963, 9204956, 9516223, 9620301, 9699728, 9856796	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	LHGDN	11500805, 11807902, 12072536, 12072543, 12107107, 12296515, 12362978, 12362979, 12459643, 12459644, 12459645, 12777976, 12783933, 12950144, 14506702, 14646619, 14719109, 14735200, 15146471, 15150307, 15305164, 15547691, 15577313, 15724013, 15856016, 16234564, 16314743, 16893909, 16896043, 16905682, 17171691, 17351674, 17492760, 17505264, 17597110, 17713569, 17890059, 17912431, 17992122, 18023021, 18027257, 18178632, 18298387, 18394881, 18398432, 18402768, 18505964, 18559569, 18613292, 18714178, 18803811, 18953432, 18981015, 18983535		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Melanoma	Pubtator	15111324, 19158841, 19212341, 23253087, 23851445, 9856841	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	CLINVAR_DG	21609436, 25157968		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	CTD_human_DG	24495407, 29426936		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	UNIPROT_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
melanoma	Melanoma	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma and neural system tumor syndrome	Melanoma And Neural System Tumor Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma astrocytoma syndrome	Melanoma Astrocytoma Syndrome	ORPHANET_DG	11136714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma astrocytoma syndrome	Melanoma	Pubtator	15937071, 24884915, 28699883, 37585199	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma astrocytoma syndrome	Melanoma Astrocytoma Syndrome	BEFREE	28699883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma astrocytoma syndrome	Melanoma Astrocytoma Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma astrocytoma syndrome	Melanoma Astrocytoma Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	10620111, 10732752, 10874641, 12107107, 12844286, 12910525, 15030338, 16374456, 17167857, 17218939, 18178632, 18612309, 18803811, 19158841, 19626699, 20574843, 20703244, 21325014, 21671477, 21801156, 23222549, 23384855, 23990928, 24742402, 25407517, 25787093, 25803691, 28300909, 28903138, 29522175, 30291219, 32483240, 33322357, 33910831, 33945383, 35085295, 35777164, 35904890, 36098958, 36156317, 37235909, 38138255, 7666916, 8751963	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	19339902		★☆☆☆☆ Found in Text Mining only
MELANOMA-PANCREATIC CANCER SYNDROME	Melanoma-Pancreatic Cancer Syndrome	CLINVAR_DG	10389768, 10627132, 10869234, 11556834, 11815963, 12072543, 12700603, 12853981, 14508519, 15146471, 16169933, 17218939, 18983535, 19260062, 19571771, 19799798, 20093296, 20340136, 20653773, 21150883, 21462282, 21801156, 21893440, 22841127, 23190892, 25356972, 25780468, 26206375, 26225579, 26381259, 26681309, 26775776, 26845104, 7647780, 7987387, 7987388, 8710906, 9425228, 9516223, 9699728, 9916806		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MELANOMA-PANCREATIC CANCER SYNDROME	Melanoma-Pancreatic Cancer Syndrome	CLINGEN_DG	11544530, 17713536, 20132244, 20340136, 22636603, 7652577, 7666917, 7670475, 8653684, 9603434		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MELANOMA-PANCREATIC CANCER SYNDROME	Melanoma-Pancreatic Cancer Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meningioma	Meningioma	BEFREE	11485924, 11859969, 11958372, 15073599, 15098535, 15365725, 15824172, 17924978, 20809251, 22288845, 25648363, 26514459, 31729637, 8834533, 9049826, 9824096		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	11485924, 25648363, 25993161, 26943583, 28699883, 33087175, 37014425, 37093270, 37947008	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	11859969, 18374497		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	11958372	Inhibit	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	12435851, 23185405, 23668904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23185405, 30613983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	9741467		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	11433400, 12499916, 18219279, 19326371, 19400830, 28359267		★☆☆☆☆ Found in Text Mining only
Mesencephalic Neoplasms	Mesencephalic Neoplasms	CTD_human_DG	24098593		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	10395284, 10626792, 10772681, 11129284, 11507034, 11876522, 12399123, 12589646, 12643444, 12659954, 12680192, 12796375, 15451223, 15950811, 16540645, 17713536, 18327208, 18379362, 18383817, 18958493, 19523712, 20081810, 20518890, 21205078, 21411785, 21526190, 22065079, 23627453, 24503757, 25668009, 26288396, 26448191, 26680231, 26900815, 27079839, 27181379, 27219841, 27405588, 28038708, 28889523, 29112861, 29227332, 29899847, 30315275, 30338612, 30354850, 30885529, 31082996, 7494231, 7585472, 7630635, 9671387, 9863027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	Pubtator	12589646, 12659954, 18379362, 25798586, 26918730, 27181379, 28283772, 32678499, 36901697, 37295554, 37400148, 37916370, 38017544	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	LHGDN	16867217, 17920725, 18327208, 18395929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	CTD_human_DG	18379362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	Pubtator	19478948, 22065079	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	12589646, 12659954, 16867217, 17270034, 17636483, 20081810, 20591913, 21642991, 22146010, 23450849, 23975423, 26057448, 26288396, 26291840, 26493618, 26554828, 26891694, 27181379, 28884745, 29656754, 30113886, 30301262, 31138176, 31945495, 32036091, 32581053, 32708306, 33112113, 33493384, 33887463, 34294087, 34648949, 35738002	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	18327208, 28704762, 34580349	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25744911, 29237539, 30087655, 31583563		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	11544530, 11876522, 12459645, 14719109, 18953432, 22580456, 25407517, 29507566, 30662871, 30835257		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	9171999		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	12351408		★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	10637494, 9815612		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22429346	Associate	★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	15814359, 19578367		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	30578714		★☆☆☆☆ Found in Text Mining only
Mixed Tumor, Mullerian	Mixed Tumor, Mullerian	BEFREE	16803529		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	11418489, 15197802, 16840723, 17213358, 19727727		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	16411180, 16799478, 18719739, 21423154, 22395505, 22726540, 24146864, 26379150, 27588487, 27976639, 29684357, 30666677, 32841926, 33274608, 34319047, 34762658, 35269619, 35488777, 36149153, 37069588	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	24991542	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	12684640, 14719099, 16799478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth Neoplasms	BEFREE	14693237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	15731778, 16449996, 17179983, 17893905, 18719739, 19846940, 21569495, 25523612, 26137587, 27644660, 28836534, 29037125, 30926069, 31013839, 31835136, 32028653, 32379408, 32819105, 35092388, 36881611	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	24991542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CLINVAR_DG	10956390, 12072543, 15937071, 16234564, 18981015, 20132244, 21150883, 21325014		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	11819820, 15818729, 20829441, 27801764, 29135516, 29845361, 29848709		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	17223311		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	10442184, 11824795, 15832193, 16357845, 31631728, 9067584, 9178679, 9736037		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	LHGDN	16357845		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	28881806		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	LHGDN	18299477		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	15662588		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10397739, 11418489, 12199782, 12433679, 15197802, 16840723, 17213358, 18577263, 22984542, 23285118, 23301219, 23831116, 24987674, 29110637, 30280787, 31885005, 32372504, 35536760, 37610069, 38018590, 9012694, 9116295, 9359513, 9633902, 9787135, 9792305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	10492069, 10557050, 10637494, 10688850, 11189209, 11243384, 11418489, 11840272, 12199782, 12200702, 12745272, 15197802, 15863274, 16166769, 16541270, 16840723, 17043023, 17213358, 17557868, 19423161, 19548309, 19727727, 19965618, 20721556, 21067440, 23301219, 23831116, 24908414, 25382971, 26099684, 28150872, 29110637, 30405800, 8946928, 9012694, 9116295, 9792305, 9815612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	LHGDN	12199782, 16541270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	CTD_human_DG	16008847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	27363682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17003070, 29516350		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	38359693	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	10793068, 11850526, 11874489, 30144205	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	20118908, 27473081	Inhibit	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10609781, 12351408, 12930158, 15755284, 16104874, 20658957, 22248274, 24889123, 25982567, 29967380, 7795238, 9111168, 9269757		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	17577921, 18316853, 19144660, 19748549, 32372504, 34915860	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	10400184, 11849214, 17912431		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	11064355, 7577621, 9324288		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10557050, 11189209, 11584062, 11919388, 12644017, 14556920, 15370242, 16533530, 16618932, 18489987, 18551992, 20082691, 21252986, 7718873, 7795238, 7919362, 8555065, 8616035, 8724524, 8946928, 9041182, 9086436		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	16533530		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	12032783, 25236537		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	20591913	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17351341, 19272367, 19293724, 22144573, 22216278, 22776031, 23266621, 24135527, 25430018, 9269998		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17351341, 21775993, 22776031, 24725463	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	19246640, 29273724	Associate	★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	16177957, 26514741		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10584871, 10646722, 10738306, 10853030, 11932901, 12632081, 12796384, 14578461, 15095314, 16506209, 16647958, 17016600, 19430707, 21535891, 23289480, 24606815, 25640361, 26545403, 28765905, 28851814, 29664911, 30029797, 31270100, 31350975, 7743498, 7862458, 8665502, 9111194		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	11932901, 12181248, 17201146, 18751390, 19430707, 19757421, 21535891, 24751144, 25109634, 26294655, 26560893, 28445979, 28581676, 28851814, 30950204, 31270100, 31350975, 9546345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	CTD_human_DG	24952746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	23289480, 26560893, 31270100	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	GWASCAT_DG	26545403		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	11221887, 12148857, 17284367, 24473065		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	28686646, 31832685	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10022125, 10025891, 10027410, 10063314, 10066070, 10067984, 10071231, 10079377, 10086736, 10092061, 10092131, 10098732, 10208428, 10210535, 10211947, 10221335, 10221342, 10229204, 10320093, 10321741, 10329596, 10334193, 10334895, 10335917, 10339660, 10341714, 10344733, 10357405, 10359144, 10363964, 10365910, 10373639, 10374887, 10376981, 10378889, 10385139, 10389970, 10393843, 10397273, 10400925, 10408854, 10416987, 10427138, 10435615, 10436819, 10443678, 10454750, 10461063, 10465111, 10465584, 10469971, 10470133, 10471040, 10477703, 10484981, 10490845, 10492034, 10495423, 10498884, 10498896, 10502725, 10512159, 10517502, 10534174, 10536182, 10536183, 10537333, 10541865, 10548481, 10554013, 10557071, 10564531, 10569533, 10574255, 10575317, 10584871, 10595915, 10601379, 10613343, 10619963, 10620109, 10632344, 10634644, 10637494, 10640976, 10646864, 10649246, 10656444, 10665922, 10669005, 10671696, 10675493, 10696248, 10704681, 10705239, 10719365, 10720483, 10721718, 10730899, 10736064, 10736068, 10738306, 10748288, 10754490, 10755387, 10763818, 10766342, 10775844, 10775848, 10793069, 10797439, 10797499, 10830779, 10854145, 10854221, 10861313, 10874641, 10880379, 10896207, 10914724, 10918395, 10918601, 10919661, 10922411, 10928172, 10937052, 10939591, 10947944, 10949938, 10951342, 10972975, 10976694, 10976724, 10986054, 10995450, 10999737, 10999738, 11023200, 11025365, 11025389, 11029509, 11034592, 11040180, 11042528, 11050047, 11061340, 11062168, 11075991, 11078762, 11079730, 11087056, 11094302, 11095446, 11101148, 11103937, 11106248, 11118625, 11121148, 11129284, 11136714, 11156381, 11159196, 11165395, 11171828, 11172613, 11191353, 11208819, 11212232, 11212268, 11221846, 11221887, 11232644, 11237522, 11238187, 11255261, 11273008, 11276008, 11278920, 11280771, 11285401, 11301189, 11303791, 11313791, 11313998, 11314038, 11314047, 11325039, 11332612, 11351270, 11355302, 11355949, 11358797, 11381373, 11408803, 11410506, 11417997, 11433531, 11435176, 11438467, 11439363, 11441822, 11444823, 11445839, 11454718, 11463458, 11470742, 11477582, 11479232, 11485924, 11494155, 11495043, 11507043, 11518467, 11526488, 11532526, 11544530, 11549271, 11555154, 11563632, 11571653, 11595058, 11595706, 11640871, 11641784, 11676855, 11687897, 11697625, 11704835, 11704859, 11706079, 11719444, 11719516, 11726500, 11726555, 11739748, 11740049, 11748479, 11753042, 11753985, 11756558, 11764089, 11773177, 11775544, 11775834, 11780412, 11782570, 11792751, 11801303, 11801557, 11801559, 11802210, 11818530, 11819863, 11820617, 11820618, 11828258, 11829433, 11830494, 11839561, 11843312, 11859969, 11861400, 11872642, 11888896, 11891539, 11895909, 11896620, 11908870, 11908877, 11920642, 11932749, 11943705, 11948103, 11948142, 11956099, 11960918, 11966726, 11982701, 11987241, 11997670, 12000749, 12005388, 12009890, 12019151, 12019208, 12040434, 12046062, 12060387, 12073046, 12082610, 12082630, 12097277, 12101111, 12101420, 12107107, 12117769, 12117890, 12118338, 12120230, 12124774, 12124803, 12127561, 12132590, 12136424, 12145426, 12148857, 12149142, 12149228, 12154064, 12168936, 12185367, 12189502, 12202501, 12213729, 12296515, 12352668, 12357355, 12362979, 12372886, 12375265, 12378512, 12382173, 12396663, 12399123, 12406555, 12406556, 12414655, 12416540, 12417040, 12433278, 12438261, 12455028, 12460469, 12461329, 12473590, 12477660, 12483540, 12499916, 12508357, 12532425, 12536308, 12559178, 12572875, 12579530, 12592382, 12598309, 12605716, 12608655, 12610506, 12618505, 12620412, 12631605, 12631606, 12632081, 12643444, 12659954, 12660028, 12673679, 12681362, 12684623, 12684640, 12690309, 12696062, 12716465, 12721243, 12738733, 12738984, 12738995, 12789286, 12790793, 12792748, 12796384, 12807717, 12810676, 12824886, 12839954, 12850376, 12861061, 12861062, 12861066, 12875969, 12875987, 12890389, 12898359, 12907744, 12918069, 12920579, 12924447, 12927689, 12932666, 12950144, 12963998, 12970072, 13679459, 14499690, 14501508, 14501820, 14506698, 14506739, 14507338, 14508081, 14519636, 14534701, 14536079, 14553942, 14563526, 14572771, 14578171, 14578461, 14585279, 14585357, 14586645, 14595762, 14598358, 14604992, 14614047, 14629754, 14640942, 14646620, 14654786, 14656070, 14675326, 14688019, 14692829, 14712292, 14719065, 14722917, 14734448, 14745721, 14749371, 14966347, 14976529, 14991568, 14991902, 15012776, 15013580, 15014024, 15030338, 15041703, 15043304, 15044833, 15073103, 15099021, 15099958, 15138605, 15140233, 15150445, 15153447, 15160522, 15161007, 15161057, 15168247, 15185075, 15189501, 15197775, 15205322, 15207713, 15213599, 15223960, 15237234, 15257544, 15258567, 15282669, 15289362, 15289870, 15292938, 15312681, 15350359, 15374957, 15375540, 15389561, 15390183, 15447998, 15452898, 15459500, 15467712, 15469606, 15476557, 15492837, 15492985, 15499618, 15507675, 15534905, 15543620, 15547691, 15557790, 15569975, 15569978, 15577914, 15578069, 15585613, 15608367, 15612080, 15613867, 15619206, 15619212, 15625370, 15629771, 15635575, 15643519, 15662416, 15662588, 15715079, 15715087, 15750619, 15757481, 15761864, 15781632, 15797047, 15797629, 15800322, 15800668, 15809712, 15814632, 15816845, 15821584, 15822191, 15832093, 15832193, 15833842, 15837618, 15846097, 15856472, 15859515, 15860770, 15862127, 15867356, 15883616, 15892997, 15897551, 15913553, 15925990, 15937071, 15942978, 15950811, 15958644, 15959912, 15968209, 15975525, 15978859, 15981101, 15985168, 15989956, 16007206, 16032697, 16043258, 16051033, 16079850, 16081515, 16082560, 16102584, 16104874, 16115905, 16157195, 16158958, 16166281, 16172233, 16199529, 16219425, 16222700, 16224217, 16232183, 16239970, 16254685, 16258509, 16284959, 16289646, 16298513, 16301525, 16316628, 16322687, 16343074, 16357845, 16360421, 16364761, 16390235, 16391877, 16398466, 16401683, 16406113, 16445657, 16449996, 16465427, 16482499, 16482519, 16508011, 16540739, 16549325, 16552541, 16572177, 16575619, 16582618, 16586536, 16598757, 16613540, 16618779, 16618932, 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30275203, 30298540, 30312320, 30348132, 30354850, 30362613, 30421509, 30428646, 30483798, 30485512, 30496796, 30506430, 30508962, 30511108, 30539751, 30552721, 30552846, 30558563, 30571736, 30597648, 30599788, 30607583, 30626916, 30643010, 30655841, 30657954, 30677079, 30680015, 30694402, 30718984, 30744497, 30753335, 30774116, 30778854, 30848981, 30861166, 30873218, 30882625, 30893149, 30896884, 30905807, 30913911, 30941950, 30975543, 30979737, 30989570, 31018208, 31032993, 31059071, 31079965, 31081054, 31091306, 31185387, 31186693, 31186694, 31193718, 31249865, 31261289, 31267186, 31269236, 31297925, 31362570, 31371816, 31387607, 31433975, 31492932, 31498175, 31546150, 31548724, 31557488, 31603125, 31616630, 31698006, 31699584, 31700903, 31729637, 31732509, 31734690, 31832685, 6090008, 7478544, 7478563, 7494231, 7544647, 7547249, 7547637, 7563154, 7563186, 7563391, 7566978, 7566983, 7576105, 7576106, 7577470, 7577621, 7582239, 7585152, 7585516, 7585628, 7591208, 7591209, 7595755, 7604019, 7614457, 7624155, 7630199, 7630644, 7632961, 7632963, 7640224, 7640518, 7647309, 7647780, 7652577, 7668266, 7675456, 7697342, 7700630, 7705923, 7712460, 7718873, 7728764, 7732591, 7742527, 7742529, 7743498, 7744694, 7747814, 7791990, 7794250, 7796417, 7805033, 7833915, 7845688, 7849711, 7862458, 7867008, 7882274, 7882335, 7887443, 7889533, 7898924, 7919362, 7923151, 7923152, 7923195, 7970734, 7972006, 7987825, 7994022, 8001221, 8012957, 8108124, 8276262, 8380100, 8521414, 8526910, 8541841, 8547074, 8547131, 8548755, 8555065, 8570224, 8589032, 8589035, 8595153, 8597035, 8603008, 8613012, 8616035, 8618438, 8620534, 8621248, 8622883, 8625287, 8625319, 8631583, 8635161, 8637248, 8640765, 8640773, 8649798, 8652807, 8653683, 8665486, 8665502, 8668350, 8679444, 8689636, 8689637, 8690521, 8698617, 8703847, 8705996, 8727306, 8751963, 8752149, 8752837, 8760309, 8781327, 8796144, 8822272, 8824721, 8831691, 8834170, 8847566, 8847892, 8855819, 8857999, 8874207, 8887073, 8895759, 8900425, 8917541, 8934552, 8945609, 8957063, 8957499, 8968104, 8971180, 8978301, 8980248, 8986966, 8988029, 9006095, 9009086, 9012464, 9031104, 9032263, 9036865, 9037130, 9038270, 9041181, 9041182, 9041193, 9046882, 9047388, 9049204, 9049826, 9066685, 9067584, 9070336, 9072554, 9086436, 9098651, 9112579, 9115583, 9120722, 9122044, 9133447, 9139845, 9139866, 9159345, 9166859, 9168184, 9171998, 9171999, 9194486, 9196251, 9205080, 9209389, 9212218, 9221801, 9221807, 9222307, 9231912, 9244358, 9247304, 9259969, 9284834, 9284835, 9290697, 9291941, 9302564, 9309118, 9309120, 9324291, 9330601, 9333024, 9334586, 9334810, 9345058, 9349503, 9351982, 9354451, 9355981, 9366289, 9366518, 9366522, 9372085, 9375748, 9378820, 9393760, 9393858, 9399648, 9402846, 9403727, 9421353, 9426048, 9426064, 9426690, 9436977, 9439683, 9441131, 9443399, 9454653, 9484839, 9484941, 9485004, 9489481, 9495360, 9508209, 9514803, 9515810, 9515812, 9516223, 9525287, 9531609, 9536218, 9537438, 9537647, 9542513, 9546285, 9554401, 9563903, 9570150, 9579564, 9591556, 9598804, 9600204, 9602705, 9616165, 9617435, 9620022, 9620301, 9622062, 9624535, 9625844, 9628511, 9638973, 9639410, 9639423, 9648588, 9659583, 9664128, 9665476, 9667798, 9671387, 9676844, 9677459, 9694617, 9698532, 9705534, 9712735, 9722600, 9735394, 9737691, 9751761, 9759882, 9776413, 9782052, 9789064, 9790510, 9796697, 9806478, 9808321, 9808523, 9815578, 9815774, 9815833, 9816033, 9816158, 9816274, 9827724, 9834265, 9839807, 9840931, 9840942, 9856841, 9861348, 9862580, 9872329, 9888465, 9889036, 9890173, 9891228, 9892114, 9892188, 9893670, 9894245, 9917133, 9920427, 9922321, 9922477, 9930365, 9935200, 9989830, 9990483, 9990866		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	11544531, 19223589		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	14631364, 15015656, 28060381		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	CTD_human_DG	15144691, 16860786		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10070944, 10389768, 10390011, 10398427, 10491434, 10498896, 10627132, 10738302, 10861313, 10874641, 10922411, 10956390, 11008905, 11075991, 11156381, 11319798, 11433531, 11506491, 11518711, 11556834, 11595726, 11687599, 11815963, 12001124, 12072543, 12454511, 12549483, 12700603, 12853981, 12920094, 14508519, 15075790, 15140233, 15146471, 15150307, 15235029, 15304098, 15304099, 15860862, 15945100, 16169933, 16214921, 16234564, 16307646, 16397522, 16896043, 16905682, 17047042, 17167857, 17171691, 17218939, 17255954, 17276542, 17492760, 17909018, 17992122, 18025365, 18178632, 18337833, 18803811, 18813118, 18951449, 18981015, 18983535, 19260062, 19484507, 19523171, 19571771, 19690981, 19759551, 19799798, 20093296, 20340136, 20526219, 20876876, 21150883, 21325014, 21462282, 21614589, 21801156, 21893440, 22636603, 22841127, 23190892, 23613284, 23897584, 24294354, 24659262, 24660985, 24733792, 24737347, 24935963, 25064638, 25227142, 25356972, 25780468, 25803691, 25813228, 25980754, 26104880, 26225579, 26581427, 26681309, 26775776, 26876133, 27287845, 28146043, 28592523, 29263814, 7566978, 7569991, 7640518, 7647780, 7670475, 7919362, 7987387, 8570179, 8573142, 8595405, 8653684, 8668202, 8710906, 8723678, 8755727, 9132280, 9328469, 9389568, 9416844, 9425228, 9516223, 9699728, 9751050, 9823374, 9856841, 9916806		★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	11815963		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	LHGDN	12753296		★☆☆☆☆ Found in Text Mining only
Nephritis Interstitial	Interstitial nephritis	Pubtator	17183247	Associate	★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10918395, 14555992, 29131258		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	LHGDN	14519636		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	CTD_human_DG	25240281		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28576567		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	10388473, 17630509, 9622062		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	14654541, 18551412		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	18551412		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11212268, 11705866, 12963998, 15390183, 15517085, 15750620, 16893909, 17486064, 17570703, 18664255, 19466588, 23343716, 24714808, 25028366, 7743501, 8630967, 8665486, 9041193, 9115582, 9216721, 9596277, 9635589, 9872329, 9935245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	11481496, 15305192, 15390183, 18664255, 19466588, 20145180, 25028366, 36941772	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	15814359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	LHGDN	18664255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34219731	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21691801		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	11526488, 16623784, 7791990, 8847566		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	LHGDN	16623784		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	10649246, 12802288, 16258509, 17278096, 25003221, 26434631, 26674347, 28008994, 30851333		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	10595915, 10595918, 11406645, 11433531, 15715079, 18803326, 21987445, 22160322, 23613284, 26191206, 26740486, 30306639		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	10595915, 10595918, 11406645, 11433531, 21987445, 23613284, 26740486, 29946502, 30306639		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	LHGDN	14519636		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	10595918, 11406645, 14519636, 14638962, 15715079, 15715087, 16540739, 22892521, 26740486, 28124441, 29774626, 29946502, 31091306		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	11406645, 14565158	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	10595918	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	15691231, 19793348, 24081673, 29731861, 29904909, 31261289		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	10595915, 11406645, 18650488, 25240281, 26191206, 26645727, 30864974, 32590748, 33707600, 34461930, 34816314, 36269225, 37246765, 37947008	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	10595918, 25189642	Inhibit	★☆☆☆☆ Found in Text Mining only
Nevi and Melanomas	Congenital melanocytic nevus syndrome	BEFREE	27855847		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	12406345, 12799637, 16214921, 16917802, 17063143, 23065465, 28830827		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	26766120		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	10584871, 12632081, 21535891		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	21889209		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31756344		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	29344143		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10063314, 10470133, 10557071, 10679921, 10734319, 10738246, 10754490, 11063124, 11103937, 11165395, 11267976, 11280771, 11282426, 11309302, 11355949, 11445839, 11454718, 11679179, 11773177, 11820617, 11843312, 11880707, 11920642, 12101420, 12406555, 12417040, 12473584, 12473590, 12518864, 12918069, 14719111, 15013580, 15254707, 15269146, 15447998, 15625370, 15671551, 15797047, 16114034, 16129599, 16184554, 16533425, 16598760, 16613540, 16951144, 17094392, 17575133, 17804741, 17923752, 17923809, 18196872, 18243403, 18449464, 18550205, 18949413, 19024105, 19212685, 19375815, 19787276, 20032395, 20082263, 20444664, 20704749, 20811718, 21255913, 21621871, 21817906, 21857254, 22154617, 22433385, 22820083, 23254264, 23355336, 23358651, 23372805, 23805242, 24077454, 24268095, 24767865, 24935385, 26119430, 26647789, 26681199, 26858029, 27959454, 28074012, 28866094, 29066508, 31157548, 31662516, 31739184, 7551956, 7563154, 7585472, 7606711, 7834618, 7882351, 8060323, 8519415, 8521414, 8589032, 8631583, 8988029, 9032263, 9120722, 9139845, 9414664, 9421353, 9624535, 9645340, 9840931, 9840942, 9846966, 9858892, 9873831		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	18337602, 19375815		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	14612904, 17061045, 18657295, 21710692, 21756866, 24978026		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	24185123		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18469204, 24058506, 33203726, 36585923	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20459442, 26334876, 28630279, 29237539		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21968977, 28630279	Inhibit	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	31312394		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	15339339	Stimulate	★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	31976596	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	15078490, 31680334		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28418845		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	10359140, 10564531, 11058870, 11307615, 11550302, 11591848, 11764090, 12622447, 14507338, 15099021, 17319279, 19240607, 19805356, 21470325, 25853694, 26206478, 27251041, 29489901		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	10433931, 23071531, 26206478, 29489901, 31832685, 37032198, 37574201	Associate	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	27497264, 38050610, 38384018	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	17236202, 19937955, 20697079, 21467228, 21542673, 22180304, 23208131, 23459718, 23634887, 23737140, 24104554, 24331868, 24344719, 24355195, 24706381, 25096827, 25339028, 25380690, 25439690, 25503184, 25619363, 25687724, 26056326, 26059208, 26152733, 26712222, 27040135, 27209505, 27474125, 27727066, 27913709, 28397583, 28542679, 28663082, 29100700, 29344081, 29460521, 29493423, 29598954, 29664911, 29878161, 29934978, 29936482, 30310820, 30626248, 30877351, 30913305, 30987261		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	18474878, 20186832, 20423915, 22907805, 24104554, 24344027, 24706381, 24782031, 24962247, 25154822, 25544647, 25556463, 25619363, 25687724, 25752384, 26014350, 26481441, 26560893, 26712222, 28025779, 28102032, 28818106, 29206831, 29936482, 30310820, 31013839, 32096150, 32624580, 33024167, 33076537, 33949155, 34024796, 34232797, 34325059, 35022425, 35184149, 35457669, 35737211, 36835246, 37081578, 37486532, 37566623, 37652496, 38288866	Associate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	21572403, 26411881	Stimulate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal Neoplasm	BEFREE	22728322		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30219053, 35776529	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32329817, 36817415	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	10620111	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32662244, 37117763	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	10207115, 11152455, 17611411, 21263217, 26261680, 30774116, 32191290, 35503452, 35689249, 36967449, 9782052	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10763818, 11695244, 11753985, 11943335, 12226753, 12759621, 15207713, 16394764, 17611411, 19718709, 20737480, 21263217, 25728247, 28489748, 28560748, 29388151, 30643010, 30774116, 30992323, 31081054, 7607566, 8603340, 9049181, 9309118, 9324288, 9464545, 9489481, 9665476, 9935200		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	11695244, 11943335, 15668906		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19478948, 30643010, 9665476	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	11780367, 27572321, 9159345, 9495360		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Carcinoma	Ovarian Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Cysts	Ovarian cysts	Pubtator	17429140	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	10077528, 24913706, 30946310	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	9159345	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10471040, 10779647, 11410518, 11992549, 15258697, 16000597, 18481196, 20603238, 21728901, 23225431, 23572389, 27572321, 27648827, 28000027, 28521400, 29435063, 30128536, 31014281, 7478544, 7591208, 7743516, 8855976, 8980248, 9036870, 9052747, 9115583, 9133447		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	LHGDN	11733969, 11992549, 17885492, 18283637		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10077528, 10471040, 11163832, 16773633, 16928264, 17134697, 17242700, 19258477, 20233889, 21131918, 21278246, 22174824, 23011824, 23303027, 23558569, 24878818, 26992217, 27488395, 27572321, 29451900, 30062862, 31014281, 31659108, 31709901, 32553118, 34711431, 35047055, 8855976, 9101469, 9159345, 9231912	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17409409, 20179198	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10037301, 10210535, 10436789, 10436811, 10445844, 10632358, 10719365, 10861313, 10880379, 10922411, 10956390, 11075991, 11283541, 11313791, 11325039, 11753042, 11792751, 11815963, 11948142, 12000709, 12079267, 12120000, 12120238, 12454511, 12802288, 12898359, 12910525, 12935400, 14506146, 14679123, 14749618, 15112280, 15133762, 15146471, 15264268, 15309028, 15336553, 15979573, 16127777, 16258260, 16397522, 16481301, 16818496, 16893909, 16905682, 17047042, 17106238, 17505013, 17535296, 17630509, 17659731, 17696250, 18299477, 18337498, 18577984, 19360740, 19417680, 19751883, 20195775, 20665497, 20687502, 21150883, 21507037, 21614589, 22049925, 22213426, 22636603, 22753594, 22806240, 22841127, 22846737, 23382133, 23393682, 23980075, 24652319, 24976721, 25071014, 25152585, 25227142, 25461770, 26337759, 26338139, 26787508, 26876133, 27449771, 27486979, 27804060, 28325302, 28373361, 28475592, 29254312, 29543703, 29922827, 30992552, 30999302, 31203567, 7640518, 7666916, 8620534, 8640773, 9735394, 9815833		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	10627132, 12120226, 12352668, 12454511, 20195775, 22636603, 25356972, 9364657		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	ORPHANET_DG	25240578		★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic cyst	Pubtator	26253305	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	12000709, 12610506, 17106238		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	LHGDN	12610506		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	12610506	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	11102889, 12000709, 16127777, 17600882, 21063957, 22113502, 22782330, 23470568, 23980075, 24986516, 28138026, 28232723, 29541281, 29769629, 29991580, 30497813, 31261289, 31639254, 31734355, 7660250		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	10627132, 26098869		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	11687897, 12610506, 14681205, 15309028, 23727582, 23980075, 24984283, 31261289, 8613012		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	11807902, 14679123, 15146471, 15336553, 15985168, 17106238, 18613292, 18714178		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10880379, 11161385, 11753042, 11815963, 12454511, 12610506, 12898359, 12910525, 14501508, 14584079, 14679123, 15173226, 15985168, 16127777, 16258260, 16397522, 16905682, 17035234, 17106238, 17198183, 17505013, 17535296, 17659731, 17696250, 17713569, 18178632, 18337498, 18813118, 19351817, 19443408, 19690177, 20581473, 20665497, 20695889, 21150883, 21614589, 21904072, 22049925, 22226782, 22534780, 22753594, 22860091, 22943525, 22991414, 23727582, 23893923, 24041470, 24534469, 24837184, 25356972, 25479140, 26098869, 26440929, 26658419, 26782786, 26787508, 27197284, 27449771, 27486979, 27732578, 27804060, 28283772, 28767289, 29216274, 29769629, 29922827, 29961768, 30038052, 30348712, 30538291, 30731170, 30992552, 30999302, 31070037, 31203567, 31319641, 31327760, 31923587, 32113160, 32354656, 32482799, 32941720, 33144687, 33350171, 33823155, 33945383, 34279685, 34471186, 34625409, 35001868, 35035831, 35227607, 35345349, 36269225, 36409970, 36717525, 36740149, 37291757, 37642079, 37685923, 39256447, 39793706, 40133473, 7666916	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15832197, 22293850	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic squamous cell carcinoma	Pancreatic Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	12802288, 15940643, 19194757, 27174785		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	25064638, 36269225	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	11283541, 14657708, 15608367, 20531246, 9815833		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	LHGDN	14657708, 15608367		★☆☆☆☆ Found in Text Mining only
Papillary renal cell carcinoma, sporadic	Papillary renal carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	12097277, 17195959, 18087199, 23497965, 26636651		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10087941, 12807717, 15584047, 15668901, 16819320, 17277618, 17294450, 18958930, 19567503, 22157933, 22991302, 24067458, 24816148, 25331947, 25575976, 25724573, 26630231, 27279281, 27732948, 28285422, 28476808, 28758552, 28777141, 28787322, 28993274, 29449057, 29533279, 30718984, 30867228, 31384393, 31732387, 31797088		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	17367326, 17488337, 20549141, 22157933, 24372672, 26514506, 27342647, 31732387, 33203919, 39712018, 39929151	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	18509008, 23154831, 24390213		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	LHGDN	18509008		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10671696, 20208994, 28600574, 31535356, 8855819		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	20208994, 21638518, 23715670, 28600574	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	8855819		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17492760, 22651796, 23046827		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	17492760		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21871868, 24139521, 24742402, 31868677, 32868381, 34645462	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	28938531		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	29273724		★☆☆☆☆ Found in Text Mining only
Partial Trisomy	Trisomy	CTD_human_DG	21526190		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	22113502, 25156567, 28720843		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	29546564		★☆☆☆☆ Found in Text Mining only
Penile Diseases	Penile disease	Pubtator	18047520	Associate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	18047520, 23341933, 26794389, 30312320, 31032357, 31856740, 32374757, 33092608, 36243680	Associate	★☆☆☆☆ Found in Text Mining only
Perineurioma	Perineurioma	CTD_human_DG	25240281		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	LHGDN	19214202		★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	CTD_human_DG	25240281		★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	BEFREE	29946502		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	23872714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	23412789, 30782609		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	31570769	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	18327208, 36138075	Inhibit	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	20081810, 24817951, 25798586, 26493618, 29048728, 31570769, 34448823, 37453150	Associate	★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	30852607		★☆☆☆☆ Found in Text Mining only
Persistent Hyperplastic Primary Vitreous	Persistent Hyperplastic Primary Vitreous	BEFREE	16620915		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	10436789, 24965111, 26191312		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11818530, 15662588, 18509008, 24390213		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	19110720	Inhibit	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	19110720, 23785438	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	23404800, 23916291		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	10564531, 12684707, 14565158, 20044755, 21610151, 21636552, 23196000, 23702730, 24057326, 31355086		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	11740049, 11775544, 17216555		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	24198235, 31109334	Associate	★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	16909113, 28181325, 28699883, 30051528, 30496796, 30972500		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	25889843, 26853494	Associate	★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	12589646, 23736021, 29656754		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	LHGDN	17675763		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	23270897		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	28124441, 30722027, 31091306		★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	23278235		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	11369633		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	11369633	Stimulate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	2292594		★☆☆☆☆ Found in Text Mining only
Pontine Tumors	Pontine Tumors	CTD_human_DG	24098593		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	30655841		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	21622646		★☆☆☆☆ Found in Text Mining only
Precursor B-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	10360377, 19602459, 20973102, 21622646, 29296886, 29966470, 31228652, 7630190, 8555068, 8683987		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	ORPHANET_DG	18838613		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16344676, 7630190, 8555068, 8847892		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	23996088, 29632299		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	10090949, 10430092, 11118035, 11441822, 12032783, 12127556, 16618932, 18328560, 18519632, 19837270, 20453839, 21549623, 21622646, 27184773, 28214896, 29446543, 29654170, 30578714, 7630190, 7780130, 7882348, 8631023, 8647524, 8683987, 9258663, 9922477		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12036898, 12127556, 15878620, 18838613		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	20453839		★☆☆☆☆ Found in Text Mining only
Precursor T-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10025891, 10778944, 10803528, 10933047, 11118035, 11260073, 11358797, 11441822, 15282669, 15361874, 15713800, 17486064, 17507663, 19380031, 19737931, 19759355, 23311322, 23695450, 24690081, 27149388, 30635552, 8547074, 8630377, 8874207, 9041181, 9345058, 9446664		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	LHGDN	18617057		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	ORPHANET_DG	18838613		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	18516091, 19907431, 29447461		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	11171828, 18456456, 18536059, 31812332		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	10976700, 11522621, 11804283		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	11243384		★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	CTD_human_DG	15144691, 16860786		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	10400184, 11849214		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	10334895, 12360471, 17239935		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	28192277		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	28438863		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10353729, 10640976, 10766342, 10797499, 10854145, 11025389, 12894226, 16170165, 16648113, 18225581, 20832018, 21912429, 23449888, 23585871, 25224321, 25906117, 26198641, 26337231, 26416059, 26691865, 26847530, 27444279, 29185453, 29561434, 30161002, 30568225, 30677079, 31111520, 7559077, 8679444, 9006095, 9112579, 9122044, 9171999, 9815578		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	16799475	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	18385760		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10797499, 10854145, 19079609, 9815578		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16799475, 18413741		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16799475, 17634487, 18225581, 18670647, 20053773, 22221586, 23193118, 23585871, 25203674, 27268646, 27356744, 27444279, 31111520, 33522043, 35638715, 37004506, 38374014, 39223207, 39873988, 7559077, 7573365, 8679444	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	17183247, 18768588	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15569009, 17509057, 18205865, 18373711, 20089081, 22998543, 27717097, 28100093, 28770513, 29115643, 29557200, 29893222, 30174431, 30215632, 30345790, 30394141, 30924030		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	14707118		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	17149367, 24012806		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22818553, 22829758, 30230590, 31481045, 32460521, 34831227, 38110986	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34456628	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	16888288, 29447461, 31481045		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29166374		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	24259266, 29949150		★☆☆☆☆ Found in Text Mining only
Rectal polyp	Rectal Polyp	BEFREE	24764585		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	CTD_human_DG	15144691, 16860786		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	11117523, 12237846, 16104874		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	15289362, 18452812		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11749694, 12218456, 14750168, 15232742, 15596059, 1662666, 16949731, 17201148, 17451187, 18452812, 19246164, 19641369, 20861610, 21218461, 22521293, 24067370, 27682877, 28337379, 29135120, 31278395, 8824727		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	11749694, 17201148, 17668170		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31312394		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	28122088		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	BEFREE	11121148		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10071231, 10339660, 10498902, 10535995, 10537333, 10541553, 10557071, 10574604, 10649246, 10665922, 10732752, 10733508, 10793065, 10797499, 10928172, 10939590, 10952243, 10962575, 11205230, 11581185, 11792751, 11980845, 12148857, 12189502, 12203366, 12207741, 12461329, 12543805, 12610506, 12695682, 12924439, 12949053, 14983878, 15041703, 15161057, 15168247, 15312681, 15837618, 15837753, 16010434, 16254685, 16301525, 16401683, 16540490, 16547155, 16613540, 16799619, 16908528, 17094467, 17277618, 17487385, 17549378, 17578512, 17804741, 18070208, 18211953, 18484097, 18506774, 18644346, 18803326, 18843795, 18973139, 19095153, 19874578, 20039270, 20379220, 20832018, 21114763, 21565925, 21717460, 21756866, 22139542, 22336108, 22484813, 22811582, 22914294, 23022476, 23686316, 23974512, 24046371, 24096545, 24714974, 25123601, 26728409, 26851223, 27229858, 27750399, 28432176, 28892048, 29016839, 30293995, 30475447, 30744497, 30952735, 7494231, 7566983, 7585513, 7591270, 7630199, 7675456, 7705923, 7972006, 8502481, 8521414, 8570224, 8652807, 8653683, 8674005, 8697435, 8934552, 9149259, 9194486, 9290697, 9302564, 9436977, 9620022, 9713590, 9839807, 9861348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	Pubtator	11719516	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	LHGDN	12391839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	Pubtator	12610506, 15976342, 16880792, 17634487, 18047520, 18644346, 22278416, 22336108, 24046371, 25499675, 27527160, 29016839, 34187205, 35792876, 9774662	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinopathy of Prematurity	Retinopathy	BEFREE	21738387, 31317786, 31788758		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	LHGDN	15796965, 18332116		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	16288006, 17486366, 20179200, 21666498		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	20212451, 21666498, 21871868	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10098732, 12368906, 12963998, 17243166, 19047133, 22135462, 8703847, 9664128		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	10098732, 34325314, 36941772, 36966552	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	12368906, 17638879		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	23469153, 37315267	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	30561268		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10395320, 11117523, 12237846, 16802342, 17569750, 18276743, 2292594, 2692124, 29465355		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	31096432, 33325534	Associate	★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	15339339, 28658331	Stimulate	★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	27644676, 31976596	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	21063414, 21732778, 23354794	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	16760277, 23145162, 26247885	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	26190415		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	10951342, 11815963, 12152785, 14584079, 17094467, 17713536, 19186005, 19221462, 22135462, 23324827, 26528855, 27597521, 28554574, 28592523, 31186694, 31189996, 7640224, 8603340, 9563903, 9582521, 9664128, 9890173, 9916925		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	11815963, 14584079, 16258501, 17094467, 23071715, 29099504, 31189996, 33963205, 34202213, 34302054, 35689249, 37585199, 40462124, 9916925	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	17533400		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	19478948, 20884963	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	32127467	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Clear Cell	Sarcoma	Pubtator	15298727, 35347249	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	32385140, 36788095	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	11520274, 21559395, 25010205, 25223734	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	34448823	Associate	★☆☆☆☆ Found in Text Mining only
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	Scapuloperoneal Myopathy, X-Linked	BEFREE	21381012		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28214898		★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	32281771	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	25986394, 36183172	Associate	★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	24440092, 25468813, 27457256		★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	14510989, 29375515, 30828837, 30852607		★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Seckel syndrome	Pubtator	23401567	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37527678	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	10484981, 15734211		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	9284835	Inhibit	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	26722409		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	7849311		★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	28476811		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	LHGDN	11874489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary syndrome	Pubtator	11874489, 20118908, 26551670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	CTD_human_DG	26551670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	20473870, 33963001	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	22986510	Stimulate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29984480, 32159757	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	10498902, 11433400, 12752119, 15008871, 15030338, 18070208, 22082146, 24742402		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	25735349	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	12941806		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	17442375, 18205865, 23872714		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	15160522, 18760195, 21209038, 24742402, 27039730	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	15613867, 15748637, 17052484, 17713536, 21986889, 28418604, 7585567, 9020067		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	31552414	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	20486992		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	26336034	Stimulate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	29848569, 31261650, 33669021	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10339660, 14506638, 15022286, 1662666, 16862075, 17923809, 19473831, 20082263, 26008974, 26190415, 26246306, 26647789, 29566943, 29788963, 30385371, 7551956, 7563154, 7834618, 7882351, 7936665, 9012464, 9393760, 9624535, 9731504		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15022286, 20082263, 26008974, 26647789, 34719665, 38206516	Associate	★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	24747207, 9049181, 9664128		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	19718788, 23627453		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	9436977	Associate	★☆☆☆☆ Found in Text Mining only
Specific Language Disorder	Specific language disorder	Pubtator	34473724	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	1537894		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	8889502		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10030668, 10092061, 10221335, 10226946, 10320093, 10389982, 10492034, 10605694, 10675493, 10694947, 10694953, 10766393, 10928172, 11165758, 11207046, 11255261, 11309302, 11313998, 11337265, 11355167, 11448914, 11555154, 11720478, 11782570, 11804749, 11820618, 11854066, 11896620, 11960918, 12063558, 12127691, 12140764, 12234999, 12373290, 12406555, 12507294, 12642877, 12648234, 12841866, 12861066, 12875969, 12898597, 13679450, 14506638, 14506739, 14719111, 14981901, 14991744, 15008871, 15041998, 15150445, 15201980, 15231689, 15260845, 15328914, 15373786, 15452898, 15619206, 15689228, 15785933, 15849750, 15870532, 15892997, 15911247, 15975525, 15998377, 16100457, 16445657, 16552541, 16598757, 16791592, 16857415, 16989737, 16998595, 17017004, 17034532, 17052587, 17113222, 17277618, 17340131, 17415114, 17539962, 17893905, 18261630, 18269647, 18315600, 18331779, 18606525, 18949413, 18958930, 19067849, 19212685, 19369633, 19567503, 19738459, 19795445, 19945765, 20571342, 20586029, 20588174, 20729138, 20923451, 21050803, 21053103, 21085986, 21411222, 21427726, 21595750, 21618514, 21679505, 21789189, 21923753, 22083977, 22157933, 22207527, 22217548, 22252715, 22360821, 22429295, 22508773, 22684221, 22804352, 22843877, 22863066, 22899653, 22935825, 22991302, 22996374, 23108906, 23111707, 23254264, 23406730, 23642549, 23899065, 24071016, 24076770, 24356192, 24436120, 24470584, 24477172, 24518594, 24710824, 24714974, 24717230, 24742402, 24991542, 25035216, 25257576, 25523612, 25544708, 25605180, 25640361, 25652585, 25871546, 25885064, 25962720, 26030731, 26074259, 26171917, 26183400, 26190415, 26260282, 26481441, 26862903, 27072243, 27080983, 27447534, 27490766, 27496009, 27717097, 28042706, 28102032, 28179162, 28212672, 28439661, 28454340, 28486384, 28515351, 28554574, 28584022, 28621317, 28807346, 28939073, 29043437, 29115643, 29405243, 29406447, 29466950, 29533279, 29548481, 29684499, 29744637, 29924316, 29925856, 30310820, 30312320, 30360033, 30511108, 30552721, 30561092, 30594962, 30607586, 30952735, 31157548, 31190998, 31246356, 31481045, 31492932, 31743131, 7547637, 7845688, 7923115, 8001221, 8621247, 8887073, 8986966, 9047388, 9125147, 9333020, 9333024, 9378820, 9403727, 9514803, 9525287, 9645340, 9676844, 9713590, 9751761, 9815619, 9881704		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	11960918, 12082610, 12124774, 12429789, 12738984, 14732922, 14985402, 14991744, 15083191, 15197677, 15328914, 15373786, 15930346, 16142358, 16201750, 16449996, 16618910, 16646054, 16791592, 16989737, 17017004, 17052587, 17060721, 17094449, 17198740, 17340131, 17549378, 18261630, 18315600, 18331779, 18480108, 18606525, 18787961, 19067849, 19101490, 19148529		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	25125259		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10537333, 11079730, 11295092, 11304781, 11595706, 11960918, 12208744, 12376481, 12478659, 14732922, 14991568, 15142680, 17016592, 17017004, 17036393, 17453003, 17970080, 18269647, 18365557, 19513816, 20388212, 20459442, 21155014, 22724384, 22938432, 22973996, 23255392, 23310950, 23361049, 24787962, 25164462, 25239644, 25820824, 25880782, 26759717, 27229481, 27414035, 27974698, 28365443, 28529620, 28927055, 29046713, 30238987, 31754346, 31851786, 8012957, 8752149, 9033652, 9333024, 9815619, 9934853		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	10389982, 11806150, 11825926, 15083191, 16467168, 17003776, 17079134, 17893905, 18708411, 20225325, 20473870, 20564751, 21359449, 21381012, 21448927, 21627359, 21628494, 21798893, 21798897, 22157933, 22203477, 22395505, 22438973, 22588195, 22735904, 22907805, 22948376, 22996374, 23086695, 23370473, 23406730, 23504914, 23778529, 23803025, 24130830, 24155659, 24156023, 24211084, 24278325, 24302590, 24403267, 24577117, 24706381, 24760498, 24820457, 25149524, 25209444, 25267748, 25523612, 25547827, 25557267, 25619363, 25631445, 25640361, 25687724, 25688737, 25712460, 25941114, 25980437, 26057450, 26213212, 26481441, 26493274, 26514493, 26683928, 26687648, 26881928, 26940728, 27027429, 27072243, 27086486, 27186851, 27246975, 27311401, 27323410, 27377733, 27644660, 27650546, 27688111, 27893418, 28102032, 28244466, 28378539, 28435450, 28686646, 29043437, 29229598, 29377909, 29440293, 29527853, 29695399, 29710215, 29747488, 29764277, 29936482, 29936930, 30041611, 30189895, 30191505, 30308005, 30310820, 30360033, 30398949, 30511108, 30527230, 30548484, 30616092, 30718984, 30890775, 31090975, 31113825, 31159573, 31422218, 31509355, 31522363, 31594213, 31628584, 31674884, 31837430, 31970439, 32032442, 32269052, 32521925, 32592364, 32624580, 32717137, 32838940, 32940116, 32951963, 32986729, 33068091, 33073473, 33169334, 33227411, 33285674, 33369885, 33456497, 33495400, 33501557, 33817711, 33830464, 33957888, 34072187, 34161676, 34232797, 34455364, 34542062, 34563788, 34598035, 34965932, 35123577, 35184149, 35225465, 35345076, 35417043, 35488777, 35491653, 35771403, 35794182, 35984201, 36189780, 36268557, 36269225, 36303016, 36522371, 36835246, 36852664, 36947706, 37004423, 37340028, 37470582, 37547764, 37876534, 37986320, 38341096, 38384018, 38530109, 39213052, 39432990, 39459468, 39528680, 39837151, 9378820, 9403727	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11101148, 24425785, 24991542, 29097782, 29500045, 34409799	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20423915, 25536600, 27865363, 36826072	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	11085511, 15231689, 15892997, 18315600, 19212685, 21621871, 22843877, 25544708, 30178167, 31481045		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	11929827, 12738984, 30308005, 31282843		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	10221335, 14981901, 16401683, 17236202, 19716018, 20225325, 20423915, 21836494, 21969383, 22146523, 22489695, 22596101, 22936053, 23342257, 24065189, 24104554, 24130830, 24156023, 24249631, 24403267, 24470584, 24803719, 24820457, 25399886, 25521312, 25687724, 25782372, 26152733, 26183400, 26195293, 26228531, 26254363, 26493274, 26712222, 26997438, 27474125, 27644660, 27688111, 27749915, 27893418, 28351577, 28378539, 28397583, 28560813, 28621317, 28789393, 29440293, 29795309, 29871820, 29925856, 29936482, 29936930, 29942347, 30079604, 30238467, 30249348, 30333880, 30626248, 30657857, 30694402, 30909875, 30973213, 31113825, 31121191, 31282843, 31384393, 31570459, 31704861, 31837430		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	12752119, 12861061, 15140233, 17488404, 22998543, 23379751, 28088318, 29727714, 30967163, 31747091		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10376532, 10574255, 11101148, 11439363, 12082610, 12101111, 12118338, 12148857, 12189502, 12234999, 12352668, 12461329, 12581898, 12738730, 12738995, 12861061, 12932666, 13679459, 14586645, 14654786, 15635575, 16465427, 16618779, 16646054, 17003776, 17317828, 18261630, 19023882, 19795456, 20737490, 21381012, 21467228, 21542673, 21572401, 21607949, 22180304, 22388100, 22410096, 22461910, 22667340, 22735904, 23086695, 23420374, 23467835, 24259368, 24278325, 24302590, 24470584, 24473065, 24577117, 24633888, 24820457, 24995714, 25081901, 25096827, 25310104, 25557267, 25575976, 25640361, 25835498, 25871546, 25873503, 25964135, 26116154, 26227616, 26657876, 26940728, 27027429, 27072243, 27105759, 27323410, 27425591, 27442811, 27859938, 27893418, 28006059, 28091733, 28542679, 28551677, 28662664, 28777152, 28789393, 28975663, 29043437, 29097782, 29178862, 29196639, 29670856, 29878161, 30355925, 30360033, 30478503, 30624179, 30666437, 30756227, 31271827, 31509355, 31519630, 31573749, 31600033, 31674884, 31727874, 31734631, 7542912, 7923115, 8705996, 9150385, 9349503, 9378820, 9628511, 9816078		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	24991542, 26192916, 26909611		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21790221, 24431303, 26025766		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	16998595, 17539962, 18753959, 18798277, 19567503, 22878614, 23190170, 25072932, 26630231, 27210818, 27411473, 28515351, 28574130, 28815579, 29163797, 29422544, 29449057, 29980281, 30082072, 30415992, 30607583, 31059071, 31771962		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	20927644		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28286271		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	24747207, 31186694, 31443718, 9582521		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10705239, 10830779, 10861481, 11477571, 11819820, 11891177, 12145426, 12210063, 12460459, 12469165, 12632489, 12632490, 12632492, 12717828, 12890389, 14556664, 14733783, 15352040, 15818729, 17058198, 17139167, 17438355, 18008030, 18622497, 19034663, 20637757, 20683001, 21849808, 22126203, 22228973, 22328012, 22558275, 22936446, 23175521, 23201008, 23504555, 24610350, 24817951, 25693938, 25882375, 25890171, 28617917, 29131253, 8957063, 9139866, 9366289, 9570245		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	12973852, 37845622	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10830779	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	11819820, 12163364, 12194996, 12460459, 12632489, 12632492, 12695555, 12717828, 12746473, 12824886, 14556664, 15534905, 15818729, 16163549, 16224153, 16475210, 16534497, 16619489, 16821608, 16952303, 18069755, 18395906, 18622497, 19372585, 20076898, 20170541, 20345486, 20809026, 20978327, 21060834, 21155014, 21203466, 21777278, 22228973, 22502664, 22558275, 23504555, 23803092, 24737431, 24817951, 25009298, 25239644, 25486483, 25882375, 26191312, 26334618, 27566570, 29089060, 29422082, 29442221, 30355646, 30567531, 30837539, 31308508, 31652270, 31665700, 31814518, 31855952, 33896386, 34551773, 37415735, 37845622, 39748714, 8797888, 8957063, 9222307	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12632492, 12824886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	18228535, 9333024, 9366289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37505170	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	Pubtator	28445979	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	31450171		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	30070315		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	19343170, 22776031, 32141564	Associate	★☆☆☆☆ Found in Text Mining only
Supratentorial Neoplasms	Supratentorial Neoplasm	BEFREE	21138945		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	12631615, 22412179, 31111520		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	11223831, 16082560, 17074682, 24747207		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	36817415	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	2292594		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	10477703, 26141385, 7632961, 9639410		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10048962, 10408858, 10919661, 11045568, 11720438, 11747331, 11752859, 12370752, 12490193, 15161057, 15492852, 15589816, 15821584, 7553622, 9436977, 9881704		★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	17428253, 23185405	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	LHGDN	19067849		★☆☆☆☆ Found in Text Mining only
Teratoma Ovarian	Ovarian teratoma	Pubtator	25735349	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	9284835	Inhibit	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	32928147, 39300957	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	7563391		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	24398474	Inhibit	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	CTD_human_DG	24974848		★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	28179162, 9398039		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	CTD_human_DG	24974848		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	9398039		★☆☆☆☆ Found in Text Mining only
Thyroglossal Cyst	Thyroglossal Cyst	BEFREE	29555577		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23497965, 26446458, 35718445, 37560303	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15579771, 16290057, 16889486, 17195959, 26514498, 31467231, 8561866, 8625287, 8822272, 8957499, 9808321, 9827724		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	22688732	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	28489587, 29615459, 30758123, 31235699	Associate	★☆☆☆☆ Found in Text Mining only
THYROID CARCINOMA, SPORADIC MEDULLARY	Thyroid Carcinoma	BEFREE	25565272		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16290057, 16889486, 17117177, 21937739, 26514498, 29445071, 31467231, 8690521, 8822272, 8957499, 9808321, 9827724		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17195959, 18766473		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	17117177, 19589279, 23218882, 26422859, 27507052, 28042956, 31235699, 35459137	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	23504914, 25339028, 33146897, 34216483	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	27086486	Stimulate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	11045568, 11747331		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	22350005		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23887295, 24096545, 24146864, 25056374, 28248879, 28445153, 30003738, 30060056, 34922607, 36052076, 36870308	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24096545, 24146864, 24726362, 25684485, 30003738		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26339389	Inhibit	★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	CTD_human_DG	21526190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	27530957		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	8824721		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	30578081, 34473724	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	11440966		★☆☆☆☆ Found in Text Mining only
Tyrosinemias	Tyrosinemia	Pubtator	20422055	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11325821, 11861396, 15292938, 17276933, 17665255, 25076849, 30563755, 30989570, 9490271, 9731506		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	16820088, 17665255		★☆☆☆☆ Found in Text Mining only
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	BEFREE	11748239, 17265068		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11819820, 12924440, 15818729, 8625287, 9827724		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	23185405, 23668904		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	14692829	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	23899065	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10376969, 10393843, 11045568, 12073046, 15226775, 15507675, 15790699, 15897688, 19924441, 20683150, 21523718, 22419364, 22761304, 23356517, 23899065, 24459064, 24675970, 24752337, 25092538, 25239644, 26017881, 27167196, 27270441, 27750214, 27814275, 29524168, 29642177, 30258198, 30279572, 31028363, 31077629, 32279463, 34980126, 35478773, 36462464, 7577470, 7744694, 7747814, 8900425	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15590562, 18234962	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urologic Neoplasms	Urologic neoplasm	Pubtator	34980126	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	10619963, 11752859, 18234280, 22684221, 24675970, 27530957, 28655867, 29731855, 30711015		★☆☆☆☆ Found in Text Mining only
Uterine Cancer	Endometrial Cancer	BEFREE	14670612		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	12000709, 12499437, 12598309, 15098254, 15492761, 15502810, 15785933, 15832197, 15858126, 16100457, 16445657, 16467166, 16998595, 17029280, 17334990, 17394499, 17488337, 18006786, 18021213, 18466028, 20069634, 20090212, 20544710, 21442767, 21729305, 22790856, 22850945, 23018436, 23026935, 23724131, 24172101, 24175764, 24399002, 24998916, 25120798, 25674264, 25894343, 26379150, 26400483, 26883858, 26905107, 27029033, 27096855, 27126662, 27401842, 27509952, 27568665, 27984373, 28188630, 28574670, 28730227, 29023464, 29684357, 30545241, 31619262, 32249820, 32664330, 32841926, 33073644, 33247678, 33729551, 34914974, 36797728, 37069588, 37148002, 37149907, 37646766, 37768009, 39304838	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	15339339, 38527980	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	23828315	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	12911724		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	26655237		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10535995, 12911724, 15143339, 15339339, 15502810, 15858126, 16803511, 17029280, 17359536, 19256750, 21245294, 21436693, 21729305, 21747645, 22072122, 22080060, 22675168, 22850945, 23505442, 23534750, 23688286, 23803076, 24046371, 24599991, 24925218, 25361681, 25422227, 25605180, 26464616, 27150161, 27401842, 27644676, 27984373, 28231598, 28453456, 28617556, 29023464, 29532409, 29895125, 30150594, 30803219, 31014281, 31492932, 31976596, 32204550, 33372263, 33413211, 33616161, 33669021, 33931022, 34319047, 34705880, 35008799, 36881611, 37148002, 37210751, 38301499, 38376311, 38453655, 40321828, 9159345, 9846965	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16415792, 24302179	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervicitis	Uterine Cervicitis	BEFREE	15492761, 17596760, 25361681, 28807346		★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	17429140, 22766790, 24878818, 32300484, 36221425	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	16462152, 20544840, 21498692, 22233735, 28340268, 28609585		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	10067984, 11431374, 11581185, 12362979, 12556369, 14506702, 17047042, 20842456, 21412176, 22723080, 24697775, 25497382, 29578129, 8631588, 9013477		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	10732752, 18205010, 25787093	Associate	★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal neoplasms	Pubtator	24525695	Associate	★☆☆☆☆ Found in Text Mining only
Vaginal Neoplasms	Vaginal Neoplasms	BEFREE	29257037		★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	24725463, 27773886, 27905995	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	11097114, 16002749, 22776031, 28672917		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22776031	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	24398474	Inhibit	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	15140233, 18712977, 26429157	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	16989737	Inhibit	★☆☆☆☆ Found in Text Mining only
VATER association	Vacterl association	Pubtator	21469422	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	36435047	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	23555779	Stimulate	★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	CTD_human_DG	17300232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	20885153, 22371043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	21627359	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	19423161		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	10359140, 10564531, 11058870, 11307615, 11550302, 11591848, 11764090, 12622447, 14507338, 15099021, 17319279, 19240607, 19805356, 21470325, 25853694, 26206478, 27251041, 29489901		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner syndrome	Pubtator	12615976	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	15247028		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	20569696, 22534780, 35436013, 40340749	Associate	★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	14625611, 2876628		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	11078762, 12485439, 15748637		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	12485439	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group C	Xeroderma pigmentosum	Pubtator	12485439	Associate	★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	12485439		★☆☆☆☆ Found in Text Mining only