MTOR (mechanistic target of rapamycin kinase)

Gene

• Entrez ID: 2475
• Gene name: Mechanistic target of rapamycin kinase
• Gene symbol: MTOR
• Synonyms (NCBI Gene): FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mT

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs55881943	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs147774167	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs587777893	G>A,T	Not-provided, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs587777894	G>A,T	Pathogenic, likely-pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs587777900	C>T	Likely-pathogenic, not-provided	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs774204282	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant, genic downstream transcript variant
rs778855567	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786205165	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs863225264	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs869312666	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs878855328	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs1057519777	C>G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519778	G>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519779	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519780	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519913	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519914	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519915	A>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519916	T>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057519917	A>G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057524044	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1057524049	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1085307113	A>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1085307114	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs1557739557	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21878637
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21878637
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21878637
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21878637
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006627	mmu-miR-100-5p	Immunohistochemistry, Microarray, qRT-PCR, Western blot	21339483
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21878637
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	21878637
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assay, qRT-PCR, Western blot	21898400
MIRT006627	mmu-miR-100-5p	Immunohistochemistry, Microarray, qRT-PCR, Western blot	21339483
MIRT006146	hsa-miR-99a-5p	FACS, Luciferase reporter assay, qRT-PCR, Western blot	22299047
MIRT006564	hsa-miR-99b-5p	FACS, Luciferase reporter assay, qRT-PCR, Western blot	22299047
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay	22983984
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay	22983984
MIRT007365	hsa-miR-100-5p	Luciferase reporter assay, qRT-PCR, Western blot	23292834
MIRT007365	hsa-miR-100-5p	Luciferase reporter assay, qRT-PCR, Western blot	23292834
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23292834
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23292834
MIRT006146	hsa-miR-99a-5p	Reporter assay;Western blot	21383697
MIRT031485	hsa-miR-16-5p	Proteomics	18668040
MIRT047241	hsa-miR-181b-5p	CLASH	23622248
MIRT037492	hsa-miR-744-5p	CLASH	23622248
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	22751686
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, Western blot	23762265
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23173671
MIRT006564	hsa-miR-99b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24668416
MIRT006564	hsa-miR-99b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24668416
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24668416
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24668416
MIRT006146	hsa-miR-99a-5p	MCF-7	24637915
MIRT006146	hsa-miR-99a-5p	ChIP-seq, Flow, Immunohistochemistry, Immunoprecipitaion, qRT-PCR, Western blot	24810364
MIRT054040	hsa-miR-101-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	22989749
MIRT007365	hsa-miR-100-5p	qRT-PCR, Western blot	23778488
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24312487
MIRT026023	hsa-miR-199a-3p	Immunofluorescence, Microarray, QRTPCR, Western blot	24810336
MIRT006146	hsa-miR-99a-5p	Immunoblot, Luciferase reporter assay, qRT-PCR	25348507
MIRT437347	hsa-let-7c-5p	Luciferase reporter assay	25311506
MIRT437347	hsa-let-7c-5p	Luciferase reporter assay	25311506
MIRT031485	hsa-miR-16-5p	Luciferase reporter assay	25311506
MIRT031485	hsa-miR-16-5p	Luciferase reporter assay	25311506
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23893385
MIRT007365	hsa-miR-100-5p	FACS, Luciferase reporter assay, qRT-PCR, Western blot	24030073
MIRT006146	hsa-miR-99a-5p	FACS, Luciferase reporter assay, qRT-PCR, Western blot	24030073
MIRT007365	hsa-miR-100-5p	Luciferase reporter assay	23270926
MIRT026023	hsa-miR-199a-3p	Luciferase reporter assay, Wetsern blot, qRT-PCR	24378853
MIRT007365	hsa-miR-100-5p	Luciferase reporter assay	23270926
MIRT026023	hsa-miR-199a-3p	Luciferase reporter assay, Wetsern blot, qRT-PCR	24378853
MIRT440200	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440200	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT006564	hsa-miR-99b-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26259252
MIRT006564	hsa-miR-99b-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	26259252
MIRT026023	hsa-miR-199a-3p	Luciferase reporter assay, qRT-PCR, Western blot	26051997
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006872	hsa-miR-144-3p	Immunofluorescence, Western blot	26687302
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay	27158364
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assay	27158364
MIRT054040	hsa-miR-101-3p	qRT-PCR, Western blot	26458815
MIRT026023	hsa-miR-199a-3p	Immunofluorescence, qRT-PCR, Western blot, Immunohistochemistry analysis	25854175
MIRT026023	hsa-miR-199a-3p	Immunofluorescence, qRT-PCR, Western blot, Immunohistochemistry analysis	25854175
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, qRT-PCR, Western blot	27072960
MIRT007365	hsa-miR-100-5p	Western blot	26744318
MIRT006146	hsa-miR-99a-5p	Flow, Immunohistochemistry, qRT-PCR, Western blot	28387375
MIRT006872	hsa-miR-144-3p	RNA-seq	32751854
MIRT733207	hsa-miR-324-3p	RNA-seq	32751854
MIRT733208	hsa-miR-451a	RNA-seq	32751854
MIRT733209	hsa-miR-18a-5p	RNA-seq	32751854
MIRT006872	hsa-miR-144-3p	RNA-seq	32751854
MIRT006872	hsa-miR-144-3p	RNA-seq	32751854
MIRT733459	hsa-miR-26b-5p	RNA-seq, qRT-PCR	34209741
MIRT733614	hsa-miR-342-3p	Luciferase reporter assay, qRT-PCR, Western blotting	34055578
MIRT734783	hsa-miR-3129-5p	Luciferase reporter assay, Western blotting, qRT-PCR	33336524
MIRT734933	hsa-miR-19b-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), Immunofluorescence	33332749
MIRT006564	hsa-miR-99b-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	31819515
MIRT735922	hsa-miR-641	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR	32423991
MIRT006564	hsa-miR-99b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32608991
MIRT026023	hsa-miR-199a-3p	Western blotting, qRT-PCR	31789347
MIRT054040	hsa-miR-101-3p	Western blotting, Immunoprecipitaion (IP), RNA-seq, Immunofluorescence, qRT-PCR, Flow cytometry	32326380
MIRT026023	hsa-miR-199a-3p	Western blotting	31898515
MIRT755644	hsa-miR-7-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37745037
MIRT006872	hsa-miR-144-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP)	38225540
MIRT006564	hsa-miR-99b-5p	Western blotting, Microarray, qRT-PCR, Immunohistochemistry (IHC), Immunofluorescence	36077039
MIRT1164567	hsa-miR-100	CLIP-seq
MIRT1164568	hsa-miR-1207-5p	CLIP-seq
MIRT1164569	hsa-miR-1294	CLIP-seq
MIRT1164570	hsa-miR-1323	CLIP-seq
MIRT1164571	hsa-miR-1909	CLIP-seq
MIRT1164572	hsa-miR-224	CLIP-seq
MIRT1164573	hsa-miR-3182	CLIP-seq
MIRT1164574	hsa-miR-4263	CLIP-seq
MIRT1164575	hsa-miR-4310	CLIP-seq
MIRT1164576	hsa-miR-4424	CLIP-seq
MIRT1164577	hsa-miR-4509	CLIP-seq
MIRT1164578	hsa-miR-4710	CLIP-seq
MIRT1164579	hsa-miR-4736	CLIP-seq
MIRT1164580	hsa-miR-4744	CLIP-seq
MIRT1164581	hsa-miR-4763-3p	CLIP-seq
MIRT1164582	hsa-miR-4799-5p	CLIP-seq
MIRT1164583	hsa-miR-548o	CLIP-seq
MIRT1164584	hsa-miR-561	CLIP-seq
MIRT1164585	hsa-miR-576-5p	CLIP-seq
MIRT1164586	hsa-miR-581	CLIP-seq
MIRT1164587	hsa-miR-99a	CLIP-seq
MIRT1164588	hsa-miR-99b	CLIP-seq
MIRT1551423	hsa-miR-4698	CLIP-seq
MIRT2047442	hsa-miR-1208	CLIP-seq
MIRT2047443	hsa-miR-1272	CLIP-seq
MIRT2047444	hsa-miR-1292	CLIP-seq
MIRT2047445	hsa-miR-1322	CLIP-seq
MIRT2047446	hsa-miR-1343	CLIP-seq
MIRT2047447	hsa-miR-2117	CLIP-seq
MIRT2047448	hsa-miR-2467-5p	CLIP-seq
MIRT2047449	hsa-miR-298	CLIP-seq
MIRT2047450	hsa-miR-3134	CLIP-seq
MIRT2047451	hsa-miR-3158-5p	CLIP-seq
MIRT2047452	hsa-miR-3190	CLIP-seq
MIRT2047453	hsa-miR-338-5p	CLIP-seq
MIRT2047454	hsa-miR-3591-5p	CLIP-seq
MIRT2047455	hsa-miR-3681	CLIP-seq
MIRT2047456	hsa-miR-370	CLIP-seq
MIRT2047457	hsa-miR-3975	CLIP-seq
MIRT2047458	hsa-miR-421	CLIP-seq
MIRT2047459	hsa-miR-4273	CLIP-seq
MIRT2047460	hsa-miR-4307	CLIP-seq
MIRT2047461	hsa-miR-4328	CLIP-seq
MIRT2047462	hsa-miR-4420	CLIP-seq
MIRT2047463	hsa-miR-4460	CLIP-seq
MIRT2047464	hsa-miR-4471	CLIP-seq
MIRT2047465	hsa-miR-4493	CLIP-seq
MIRT2047466	hsa-miR-4502	CLIP-seq
MIRT2047467	hsa-miR-4534	CLIP-seq
MIRT2047468	hsa-miR-4646-5p	CLIP-seq
MIRT2047469	hsa-miR-4649-3p	CLIP-seq
MIRT2047470	hsa-miR-4663	CLIP-seq
MIRT2047471	hsa-miR-4682	CLIP-seq
MIRT2047472	hsa-miR-4687-3p	CLIP-seq
MIRT2047473	hsa-miR-4709-5p	CLIP-seq
MIRT2047474	hsa-miR-4716-5p	CLIP-seq
MIRT2047475	hsa-miR-4727-3p	CLIP-seq
MIRT2047476	hsa-miR-4729	CLIP-seq
MIRT2047477	hsa-miR-4753-5p	CLIP-seq
MIRT2047478	hsa-miR-4762-3p	CLIP-seq
MIRT2047479	hsa-miR-485-5p	CLIP-seq
MIRT2047480	hsa-miR-515-5p	CLIP-seq
MIRT2047481	hsa-miR-544b	CLIP-seq
MIRT2047482	hsa-miR-545	CLIP-seq
MIRT1164586	hsa-miR-581	CLIP-seq
MIRT2047483	hsa-miR-646	CLIP-seq
MIRT2047484	hsa-miR-647	CLIP-seq
MIRT2047485	hsa-miR-671-5p	CLIP-seq
MIRT2047486	hsa-miR-7	CLIP-seq
MIRT1164568	hsa-miR-1207-5p	CLIP-seq
MIRT2047444	hsa-miR-1292	CLIP-seq
MIRT1164569	hsa-miR-1294	CLIP-seq
MIRT2047446	hsa-miR-1343	CLIP-seq
MIRT2276371	hsa-miR-144	CLIP-seq
MIRT1164571	hsa-miR-1909	CLIP-seq
MIRT2047449	hsa-miR-298	CLIP-seq
MIRT2047451	hsa-miR-3158-5p	CLIP-seq
MIRT1164573	hsa-miR-3182	CLIP-seq
MIRT2047452	hsa-miR-3190	CLIP-seq
MIRT2047453	hsa-miR-338-5p	CLIP-seq
MIRT2047454	hsa-miR-3591-5p	CLIP-seq
MIRT2276372	hsa-miR-3660	CLIP-seq
MIRT2047455	hsa-miR-3681	CLIP-seq
MIRT2047456	hsa-miR-370	CLIP-seq
MIRT2047458	hsa-miR-421	CLIP-seq
MIRT2276373	hsa-miR-4256	CLIP-seq
MIRT2276374	hsa-miR-4305	CLIP-seq
MIRT1164575	hsa-miR-4310	CLIP-seq
MIRT2276375	hsa-miR-4312	CLIP-seq
MIRT2047463	hsa-miR-4460	CLIP-seq
MIRT2047464	hsa-miR-4471	CLIP-seq
MIRT2047465	hsa-miR-4493	CLIP-seq
MIRT2047466	hsa-miR-4502	CLIP-seq
MIRT2276376	hsa-miR-4526	CLIP-seq
MIRT2047468	hsa-miR-4646-5p	CLIP-seq
MIRT2276377	hsa-miR-4699-3p	CLIP-seq
MIRT2047473	hsa-miR-4709-5p	CLIP-seq
MIRT1164578	hsa-miR-4710	CLIP-seq
MIRT2276378	hsa-miR-4711-3p	CLIP-seq
MIRT2047475	hsa-miR-4727-3p	CLIP-seq
MIRT1164579	hsa-miR-4736	CLIP-seq
MIRT2047477	hsa-miR-4753-5p	CLIP-seq
MIRT2047478	hsa-miR-4762-3p	CLIP-seq
MIRT1164581	hsa-miR-4763-3p	CLIP-seq
MIRT2276379	hsa-miR-511	CLIP-seq
MIRT2047482	hsa-miR-545	CLIP-seq
MIRT2276380	hsa-miR-548a-5p	CLIP-seq
MIRT2276381	hsa-miR-548ab	CLIP-seq
MIRT2276382	hsa-miR-548ak	CLIP-seq
MIRT2276383	hsa-miR-548b-5p	CLIP-seq
MIRT2276384	hsa-miR-548c-5p	CLIP-seq
MIRT2276385	hsa-miR-548d-5p	CLIP-seq
MIRT2276386	hsa-miR-548h	CLIP-seq
MIRT2276387	hsa-miR-548i	CLIP-seq
MIRT2276388	hsa-miR-548j	CLIP-seq
MIRT2276389	hsa-miR-548k	CLIP-seq
MIRT2276390	hsa-miR-548l	CLIP-seq
MIRT2276391	hsa-miR-548w	CLIP-seq
MIRT2276392	hsa-miR-548y	CLIP-seq
MIRT2276393	hsa-miR-559	CLIP-seq
MIRT1164586	hsa-miR-581	CLIP-seq
MIRT2276394	hsa-miR-582-5p	CLIP-seq
MIRT2047483	hsa-miR-646	CLIP-seq
MIRT2047485	hsa-miR-671-5p	CLIP-seq
MIRT2047449	hsa-miR-298	CLIP-seq
MIRT2047451	hsa-miR-3158-5p	CLIP-seq
MIRT2047456	hsa-miR-370	CLIP-seq
MIRT2047465	hsa-miR-4493	CLIP-seq
MIRT2047477	hsa-miR-4753-5p	CLIP-seq
MIRT2047478	hsa-miR-4762-3p	CLIP-seq
MIRT2431286	hsa-miR-375	CLIP-seq
MIRT2047459	hsa-miR-4273	CLIP-seq
MIRT2431287	hsa-miR-4677-5p	CLIP-seq
MIRT2431288	hsa-miR-767-3p	CLIP-seq
MIRT1164569	hsa-miR-1294	CLIP-seq
MIRT2575277	hsa-miR-101	CLIP-seq
MIRT2575278	hsa-miR-1202	CLIP-seq
MIRT2575279	hsa-miR-1244	CLIP-seq
MIRT2575280	hsa-miR-1245	CLIP-seq
MIRT2575281	hsa-miR-128	CLIP-seq
MIRT2575282	hsa-miR-1293	CLIP-seq
MIRT2276371	hsa-miR-144	CLIP-seq
MIRT2575283	hsa-miR-199b-3p	CLIP-seq
MIRT2575284	hsa-miR-2113	CLIP-seq
MIRT2047449	hsa-miR-298	CLIP-seq
MIRT2575285	hsa-miR-3065-3p	CLIP-seq
MIRT2575286	hsa-miR-3156-3p	CLIP-seq
MIRT2047451	hsa-miR-3158-5p	CLIP-seq
MIRT2575287	hsa-miR-3168	CLIP-seq
MIRT2575288	hsa-miR-3194-5p	CLIP-seq
MIRT2575289	hsa-miR-323-5p	CLIP-seq
MIRT2575290	hsa-miR-323b-3p	CLIP-seq
MIRT2047453	hsa-miR-338-5p	CLIP-seq
MIRT2575291	hsa-miR-339-5p	CLIP-seq
MIRT2047456	hsa-miR-370	CLIP-seq
MIRT2431286	hsa-miR-375	CLIP-seq
MIRT2575292	hsa-miR-3972	CLIP-seq
MIRT2047458	hsa-miR-421	CLIP-seq
MIRT2047459	hsa-miR-4273	CLIP-seq
MIRT2575293	hsa-miR-4281	CLIP-seq
MIRT2575294	hsa-miR-4291	CLIP-seq
MIRT2575295	hsa-miR-4301	CLIP-seq
MIRT2276374	hsa-miR-4305	CLIP-seq
MIRT2575296	hsa-miR-4483	CLIP-seq
MIRT2047465	hsa-miR-4493	CLIP-seq
MIRT2431287	hsa-miR-4677-5p	CLIP-seq
MIRT2575297	hsa-miR-4686	CLIP-seq
MIRT1551423	hsa-miR-4698	CLIP-seq
MIRT2047473	hsa-miR-4709-5p	CLIP-seq
MIRT2047476	hsa-miR-4729	CLIP-seq
MIRT2047477	hsa-miR-4753-5p	CLIP-seq
MIRT2047479	hsa-miR-485-5p	CLIP-seq
MIRT2575298	hsa-miR-570	CLIP-seq
MIRT2575299	hsa-miR-579	CLIP-seq
MIRT2575300	hsa-miR-607	CLIP-seq
MIRT2047483	hsa-miR-646	CLIP-seq
MIRT2575301	hsa-miR-659	CLIP-seq
MIRT2575302	hsa-miR-670	CLIP-seq
MIRT2431288	hsa-miR-767-3p	CLIP-seq
MIRT2575303	hsa-miR-889	CLIP-seq
MIRT2575280	hsa-miR-1245	CLIP-seq
MIRT2575281	hsa-miR-128	CLIP-seq
MIRT2575282	hsa-miR-1293	CLIP-seq
MIRT2575284	hsa-miR-2113	CLIP-seq
MIRT2047449	hsa-miR-298	CLIP-seq
MIRT2575286	hsa-miR-3156-3p	CLIP-seq
MIRT2047451	hsa-miR-3158-5p	CLIP-seq
MIRT2575289	hsa-miR-323-5p	CLIP-seq
MIRT2047453	hsa-miR-338-5p	CLIP-seq
MIRT2575291	hsa-miR-339-5p	CLIP-seq
MIRT2047456	hsa-miR-370	CLIP-seq
MIRT2431286	hsa-miR-375	CLIP-seq
MIRT2047458	hsa-miR-421	CLIP-seq
MIRT2047459	hsa-miR-4273	CLIP-seq
MIRT2575293	hsa-miR-4281	CLIP-seq
MIRT2575295	hsa-miR-4301	CLIP-seq
MIRT2276374	hsa-miR-4305	CLIP-seq
MIRT2575296	hsa-miR-4483	CLIP-seq
MIRT2047465	hsa-miR-4493	CLIP-seq
MIRT2431287	hsa-miR-4677-5p	CLIP-seq
MIRT2575297	hsa-miR-4686	CLIP-seq
MIRT2047473	hsa-miR-4709-5p	CLIP-seq
MIRT2047477	hsa-miR-4753-5p	CLIP-seq
MIRT2575298	hsa-miR-570	CLIP-seq
MIRT2047483	hsa-miR-646	CLIP-seq
MIRT2575301	hsa-miR-659	CLIP-seq
MIRT2575302	hsa-miR-670	CLIP-seq
MIRT2431288	hsa-miR-767-3p	CLIP-seq
MIRT2575303	hsa-miR-889	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	20713597, 23202584, 23392225, 23524951, 25891078, 28890335, 33637724
GO:0000045	Process	Autophagosome assembly	IMP	30778222
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000822	Function	Inositol hexakisphosphate binding	IDA	33158864
GO:0001002	Function	RNA polymerase III type 1 promoter sequence-specific DNA binding	IDA	20233713
GO:0001003	Function	RNA polymerase III type 2 promoter sequence-specific DNA binding	IDA	20233713
GO:0001006	Function	RNA polymerase III type 3 promoter sequence-specific DNA binding	IDA	20233713
GO:0001156	Function	TFIIIC-class transcription factor complex binding	IDA	20543138
GO:0001558	Process	Regulation of cell growth	IDA	18762023
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0002296	Process	T-helper 1 cell lineage commitment	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003179	Process	Heart valve morphogenesis	IEA
GO:0004672	Function	Protein kinase activity	IDA	12150926
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	22768106
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12087098, 12718876, 15467718, 17517883, 18372248, 18925875, 20022946, 20537536, 22017875, 22017876, 22017877, 22343943, 22576015, 22692423, 23426360, 23524951, 24403073, 24448649, 24670654, 29236692, 29424687, 29567957, 29750193, 30171069, 30704899, 31695197, 32561715, 32612235, 331
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004713	Function	Protein tyrosine kinase activity	IDA	26584640
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10089303, 11438723, 12150925, 12150926, 12408816, 15161933, 15467718, 16915281, 17148612, 17461779, 17565979, 18339839, 18550814, 18566587, 18955708, 19446321, 19619545, 19875983, 20080789, 20543138, 20562859, 20864032, 21045808, 21376236, 21471201, 21614075, 22307628, 22343943, 224
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	25294810
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11853878, 20381137
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005764	Component	Lysosome	IDA	20381137, 25936802, 29750193
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	22424946
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	31112131, 31601764, 38006878
GO:0005765	Component	Lysosomal membrane	IDA	30956113
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	21867682
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	30956113
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	21867682
GO:0005886	Component	Plasma membrane	IEA
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0006207	Process	'de novo' pyrimidine nucleobase biosynthetic process	IEA
GO:0006446	Process	Regulation of translational initiation	IDA	22578813
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	18498745, 22578813
GO:0006954	Process	Inflammatory response	IEA
GO:0006974	Process	DNA damage response	NAS	17041623
GO:0007010	Process	Cytoskeleton organization	NAS	15268862
GO:0007040	Process	Lysosome organization	IDA	24448649, 35662396
GO:0007281	Process	Germ cell development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	28873464
GO:0008286	Process	Insulin receptor signaling pathway	IDA	38056462
GO:0008361	Process	Regulation of cell size	IEA
GO:0008361	Process	Regulation of cell size	IMP	22424946
GO:0009267	Process	Cellular response to starvation	IDA	22576015, 28223137
GO:0009408	Process	Response to heat	IEA
GO:0009615	Process	Response to virus	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0009891	Process	Positive regulation of biosynthetic process	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0010507	Process	Negative regulation of autophagy	IDA	22576015, 30704899, 32561715
GO:0010507	Process	Negative regulation of autophagy	IEA
GO:0010507	Process	Negative regulation of autophagy	IMP	22424946
GO:0010507	Process	Negative regulation of autophagy	ISS
GO:0010507	Process	Negative regulation of autophagy	NAS	28283069
GO:0010508	Process	Positive regulation of autophagy	IDA	22017875, 22017876
GO:0010592	Process	Positive regulation of lamellipodium assembly	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	27919618
GO:0010831	Process	Positive regulation of myotube differentiation	IEA
GO:0012505	Component	Endomembrane system	IDA	18497260, 22424946
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11853878
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	IEA
GO:0016241	Process	Regulation of macroautophagy	TAS
GO:0016242	Process	Negative regulation of macroautophagy	IBA
GO:0016242	Process	Negative regulation of macroautophagy	IDA	25327288
GO:0016242	Process	Negative regulation of macroautophagy	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	IEA
GO:0016605	Component	PML body	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030307	Process	Positive regulation of cell growth	NAS	22500797, 25906254
GO:0030425	Component	Dendrite	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	IEA
GO:0031146	Process	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	22017875, 22017876, 30171069, 36608670
GO:0031295	Process	T cell costimulation	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031529	Process	Ruffle organization	IEA
GO:0031641	Process	Regulation of myelination	IEA
GO:0031648	Process	Protein destabilization	IDA	36608670
GO:0031667	Process	Response to nutrient levels	IDA	29750193
GO:0031669	Process	Cellular response to nutrient levels	IDA	29750193, 32561715
GO:0031669	Process	Cellular response to nutrient levels	IDA	29750193, 32561715
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0031669	Process	Cellular response to nutrient levels	ISS
GO:0031669	Process	Cellular response to nutrient levels	NAS	19299511, 22500797
GO:0031670	Process	Cellular response to nutrient	IDA	22017875, 22017876, 22017877
GO:0031670	Process	Cellular response to nutrient	IDA	22017875, 22017876, 22017877
GO:0031929	Process	TOR signaling	IEA
GO:0031929	Process	TOR signaling	IMP	15467718, 17028174, 18762023, 26018084, 29750193
GO:0031929	Process	TOR signaling	NAS	23778976
GO:0031931	Component	TORC1 complex	IBA
GO:0031931	Component	TORC1 complex	IDA	12150926, 12718876, 15467718, 18925875, 24403073, 26678875, 27909983, 29236692, 31601764
GO:0031931	Component	TORC1 complex	IEA
GO:0031931	Component	TORC1 complex	IMP	20537536
GO:0031931	Component	TORC1 complex	IPI	26678875
GO:0031932	Component	TORC2 complex	IBA
GO:0031932	Component	TORC2 complex	IDA	15467718, 18925875, 21376236, 21867682, 24670654, 29424687, 29567957, 33158864, 35926713
GO:0031932	Component	TORC2 complex	IEA
GO:0031932	Component	TORC2 complex	IPI	17461779
GO:0032868	Process	Response to insulin	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IDA	18372248
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	15467718
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IDA	22343943, 22424946, 22576015, 22692423
GO:0035264	Process	Multicellular organism growth	IEA
GO:0038202	Process	TORC1 signaling	IBA
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0038202	Process	TORC1 signaling	IDA	12087098, 17517883, 18372248, 22017875, 22017876, 22017877, 24403073, 24448649, 28223137, 29236692, 29750193, 31112131, 32612235, 36608670, 38006878
GO:0038202	Process	TORC1 signaling	IMP	12718876, 22424946
GO:0038203	Process	TORC2 signaling	IDA	21343617, 28264193
GO:0038203	Process	TORC2 signaling	IDA	21376236, 24670654, 29424687, 29567957, 33158864, 35926713
GO:0038203	Process	TORC2 signaling	IEA
GO:0038203	Process	TORC2 signaling	ISS
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042802	Function	Identical protein binding	IPI	11438723, 24670654
GO:0043022	Function	Ribosome binding	IDA	21376236
GO:0043022	Function	Ribosome binding	IEA
GO:0043066	Process	Negative regulation of apoptotic process	NAS	22500797
GO:0043200	Process	Response to amino acid	IDA	18497260
GO:0043200	Process	Response to amino acid	IEA
GO:0043276	Process	Anoikis	NAS	23778976
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	28147277
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045335	Component	Phagocytic vesicle	IDA	27623384
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	ISS
GO:0045727	Process	Positive regulation of translation	IDA	18762023
GO:0045727	Process	Positive regulation of translation	IMP	28106072
GO:0045792	Process	Negative regulation of cell size	IEA
GO:0045821	Process	Positive regulation of glycolytic process	NAS	20670887
GO:0045824	Process	Negative regulation of innate immune response	IDA	35662396
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IMP	20233713
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0045948	Process	Positive regulation of translational initiation	IDA	22578813, 29750193
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	18498745
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IEA
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IMP	18762023
GO:0046889	Process	Positive regulation of lipid biosynthetic process	ISS
GO:0046889	Process	Positive regulation of lipid biosynthetic process	NAS	20670887
GO:0048266	Process	Behavioral response to pain	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0050821	Process	Protein stabilization	ISS
GO:0050882	Process	Voluntary musculoskeletal movement	IEA
GO:0051219	Function	Phosphoprotein binding	IPI	11853878
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051496	Process	Positive regulation of stress fiber assembly	IEA
GO:0051549	Process	Positive regulation of keratinocyte migration	IMP	27919618
GO:0051896	Process	Regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	9094314
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS
GO:0055006	Process	Cardiac cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0061431	Process	Cellular response to methionine	IDA	38006878
GO:0062027	Process	Positive regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process	IDA	30171069
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IDA	22424946
GO:0071233	Process	Cellular response to L-leucine	IDA	22424946
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0071456	Process	Cellular response to hypoxia	NAS	17041623
GO:0071470	Process	Cellular response to osmotic stress	NAS	17041623
GO:0080135	Process	Regulation of cellular response to stress	IEA
GO:0090559	Process	Regulation of membrane permeability	IEA
GO:0097700	Process	Vascular endothelial cell response to laminar fluid shear stress	TAS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140367	Process	Antibacterial innate immune response	IDA	35662396
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1900181	Process	Negative regulation of protein localization to nucleus	IDA	35662396
GO:1900181	Process	Negative regulation of protein localization to nucleus	IDA	22343943, 22576015, 22692423, 24448649, 32612235, 35662396
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	24036451
GO:1902554	Component	Serine/threonine protein kinase complex	IDA	26678875, 35926713
GO:1903691	Process	Positive regulation of wound healing, spreading of epidermal cells	IMP	27919618
GO:1903940	Process	Negative regulation of TORC2 signaling	IDA	19720745, 19935711
GO:1903940	Process	Negative regulation of TORC2 signaling	ISS
GO:1904059	Process	Regulation of locomotor rhythm	IEA
GO:1904059	Process	Regulation of locomotor rhythm	ISS
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	17386266, 22017875, 22017876
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	22017875, 22017876, 22017877
GO:1904690	Process	Positive regulation of cytoplasmic translational initiation	TAS	28386764
GO:1905671	Process	Regulation of lysosome organization	IDA	35662396
GO:1905671	Process	Regulation of lysosome organization	IDA	22692423
GO:1905672	Process	Negative regulation of lysosome organization	IDA	24448649, 32612235
GO:1905857	Process	Positive regulation of pentose-phosphate shunt	NAS	20670887
GO:1990253	Process	Cellular response to leucine starvation	IDA	22424946
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	39032648
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IDA	36608670
GO:2000767	Process	Positive regulation of cytoplasmic translation	ISS
GO:2000785	Process	Regulation of autophagosome assembly	IDA	23524951

Other IDs

• MIM: 601231
• HGNC: 3942
• e!Ensembl: ENSG00000198793

Protein

• UniProt ID: P42345
• Protein name: Serine/threonine-protein kinase mTOR (EC 2.7.11.1) (FK506-binding protein 12-rapamycin complex-associated protein 1) (FKBP12-rapamycin complex-associated protein) (Mammalian target of rapamycin) (mTOR) (Mechanistic target of rapamycin) (Rapamycin and FKBP
• Protein function: Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:122
• PDB: 1AUE, 1FAP, 1NSG, 2FAP, 2GAQ, 2NPU, 2RSE, 3FAP, 3JBZ, 4DRH, 4DRI, 4DRJ, 4FAP, 4JSN, 4JSP, 4JSV, 4JSX, 4JT5, 4JT6, 5FLC, 5GPG, 5H64, 5WBH, 5WBU, 5WBY, 5ZCS, 6BCU, 6BCX, 6M4U, 6M4W, 6SB0, 6SB2, 6ZWM, 6ZWO, 7EPD, 7OWG, 7PE7, 7PE8, 7PE9, 7PEA, 7PEB, 7PEC, 7TZO, 7UXC, 7UXH, 8ER6, 8ER7, 8ERA, 8PPZ, 8RCH, 8RCK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11865	DUF3385	854 → 1024	Domain of unknown function (DUF3385)	Family
  PF02259	FAT	1513 → 1908	FAT domain	Family
  PF08771	FRB_dom	2015 → 2113	FKBP12-rapamycin binding domain	Domain
  PF00454	PI3_PI4_kinase	2181 → 2431	Phosphatidylinositol 3- and 4-kinase	Family
  PF02260	FATC	2518 → 2549	FATC domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in numerous tissues, with highest levels in testis. {ECO:0000269|PubMed:12408816, ECO:0000269|PubMed:7809080}.
• Sequence:

  MLGTGPAAATTAATTSSNVSVLQQFASGLKSRNEETRAKAAKELQHYVTMELREMSQEES
  TRFYDQLNHHIFELVSSSDANERKGGILAIASLIGVEGGNATRIGRFANYLRNLLPSNDP
  VVMEMASKAIGRLAMAGDTFTAEYVEFEVKRALEWLGADRNEGRRHAAVLVLRELAISVP
  TFFFQQVQPFFDNIFVAVWDPKQAIREGAVAALRACLILTTQREPKEMQKPQWYRHTFEE
  AEKGFDETLAKEKGMNRDDRIHGALLILNELVRISSMEGERLREEMEEITQQQLVHDKYC
  KDLMGFGTKPRHITPFTSFQAVQPQQSNALVGLLGYSSHQGLMGFGTSPSPAKSTLVESR
  CCRDLMEEKFDQVCQWVLKCRNSKNSLIQMTILNLLPRLAAFRPSAFTDTQYLQDTMNHV
  LSCVKKEKERTAAFQALGLLSVAVRSEFKVYLPRVLDIIRAALPPKDFAHKRQKAMQVDA
  TVFTCISMLARAMGPGIQQDIKELLEPMLAVGLSPALTAVLYDLSRQIPQLKKDIQDGLL
  KMLSLVLMHKPLRHPGMPKGLAHQLASPGLTTLPEASDVGSITLALRTLGSFEFEGHSLT
  QFVRHCADHFLNSEHKEIRMEAARTCSRLLTPSIHLISGHAHVVSQTAVQVVADVLSKLL
  VVGITDPDPDIRYCVLASLDERFDAHLAQAENLQALFVALNDQVFEIRELAICTVGRLSS
  MNPAFVMPFLRKMLIQILTELEHSGIGRIKEQSARMLGHLVSNAPRLIRPYMEPILKALI
  LKLKDPDPDPNPGVINNVLATIGELAQVSGLEMRKWVDELFIIIMDMLQDSSLLAKRQVA
  LWTLGQLVASTGYVVEPYRKYPTLLEVLLNFLKTEQNQGTRREAIRVLGLLGALDPYKHK
  VNIGMIDQSRDASAVSLSESKSSQDSSDYSTSEMLVNMGNLPLDEFYPAVSMVALMRIFR
  DQSLSHHHTMVVQAITFIFKSLGLKCVQFLPQVMPTFLNVIRVCDGAIREFLFQQLGMLV
  SFVKSHIRPYMDEIVTLMREFWVMNTSIQSTIILLIEQIVVALGGEFKLYLPQLIPHMLR
  VFMHDNSPGRIVSIKLLAAIQLFGANLDDYLHLLLPPIVKLFDAPEAPLPSRKAALETVD
  RLTESLDFTDYASRIIHPIVRTLDQSPELRSTAMDTLSSLVFQLGKKYQIFIPMVNKVLV
  RHRINHQRYDVLICRIVKGYTLADEEEDPLIYQHRMLRSGQGDALASGPVETGPMKKLHV
  STINLQKAWGAARRVSKDDWLEWLRRLSLELLKDSSSPSLRSCWALAQAYNPMARDLFNA
  AFVSCWSELNEDQQDELIRSIELALTSQDIAEVTQTLLNLAEFMEHSDKGPLPLRDDNGI
  VLLGERAAKCRAYAKALHYKELEFQKGPTPAILESLISINNKLQQPEAAAGVLEYAMKHF
  GELEIQATWYEKLHEWEDALVAYDKKMDTNKDDPELMLGRMRCLEALGEWGQLHQQCCEK
  WTLVNDETQAKMARMAAAAAWGLGQWDSMEEYTCMIPRDTHDGAFYRAVLALHQDLFSLA
  QQCIDKARDLLDAELTAMAGESYSRAYGAMVSCHMLSELEEVIQYKLVPERREIIRQIWW
  ERLQGCQRIVEDWQKILMVRSLVVSPHEDMRTWLKYASLCGKSGRLALAHKTLVLLLGVD
  PSRQLDHPLPTVHPQVTYAYMKNMWKSARKIDAFQHMQHFVQTMQQQAQHAIATEDQQHK
  QELHKLMARCFLKLGEWQLNLQGINESTIPKVLQYYSAATEHDRSWYKAWHAWAVMNFEA
  VLHYKHQNQARDEKKKLRHASGANITNATTAATTAATATTTASTEGSNSESEAESTENSP
  TPSPLQKKVTEDLSKTLLMYTVPAVQGFFRSISLSRGNNLQDTLRVLTLWFDYGHWPDVN
  EALVEGVKAIQIDTWLQVIPQLIARIDTPRPLVGRLIHQLLTDIGRYHPQALIYPLTVAS
  KSTTTARHNAANKILKNMCEHSNTLVQQAMMVSEELIRVAILWHEMWHEGLEEASRLYFG
  ERNVKGMFEVLEPLHAMMERGPQTLKETSFNQAYGRDLMEAQEWCRKYMKSGNVKDLTQA
  WDLYYHVFRRISKQLPQLTSLELQYVSPKLLMCRDLELAVPGTYDPNQPIIRIQSIAPSL
  QVITSKQRPRKLTLMGSNGHEFVFLLKGHEDLRQDERVMQLFGLVNTLLANDPTSLRKNL
  SIQRYAVIPLSTNSGLIGWVPHCDTLHALIRDYREKKKILLNIEHRIMLRMAPDYDHLTL
  MQKVEVFEHAVNNTAGDDLAKLLWLKSPSSEVWFDRRTNYTRSLAVMSMVGYILGLGDRH
  PSNLMLDRLSGKILHIDFGDCFEVAMTREKFPEKIPFRLTRMLTNAMEVTGLDGNYRITC
  HTVMEVLREHKDSVMAVLEAFVYDPLLNWRLMDTNTKGNKRSRTRTDSYSAGQSVEILDG
  VELGEPAHKKTGTTVPESIHSFIGDGLVKPEALNKKAIQIINRVRDKLTGRDFSHDDTLD
  VPTQVELLIKQATSHENLCQCYIGWCPFW

• Sequence length: 2549

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
CEBALID syndrome	Pathogenic; Likely pathogenic	rs587777900, rs863225264, rs786205165, rs1085307113, rs1553171141, rs587777893, rs968817513, rs1642915400, rs1644090272, rs1644348291	RCV001260512 RCV001260508 RCV001260505 RCV001260513 RCV001260511 RCV001260509 RCV001260514 RCV001260510 RCV001260506 RCV001260504	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs587777894	RCV006253980	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemimegalencephaly	Pathogenic	rs1057519914	RCV000494705	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs863225264	RCV001544505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated focal cortical dysplasia type II	Pathogenic; Likely pathogenic	rs587777893, rs587777894, rs2100609915, rs863225264, rs1644347782, rs1057519779, rs1085307113, rs1085307114	RCV005251084 RCV000477713 RCV002249105 RCV001329983 RCV003456322 RCV000477715 RCV000477729 RCV000477731 RCV000477677 RCV000477684 RCV000991198	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrocephaly	Likely pathogenic; Pathogenic	rs1557739557	RCV000768372	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Likely pathogenic; Pathogenic	rs2100402606, rs2100901805, rs2100414567, rs2100396600, rs2100983961, rs587777893, rs587777900, rs786205165, rs863225264, rs869312666, rs869312671, rs2522995793, rs878855328, rs2100423871, rs1057519915, rs1057524044, rs1553171141, rs1557739557	RCV001376166 RCV001591643 RCV001775303 RCV001824269 RCV001824270 RCV002272139 RCV003444060 RCV000170355 RCV000201885 RCV000209915 RCV000209880 RCV003153177 RCV000234811 RCV004799686 RCV003992287 RCV000995810 RCV001253755 RCV003333085 RCV005623364 RCV003883163	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MTOR-related disorder	Pathogenic	rs587777893	RCV005223131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MTOR-related megalencephaly and pigmentary mosaicism in skin	Pathogenic	rs587777893	RCV000708565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs2100423871	RCV006274424	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Overgrowth syndrome	Likely pathogenic	rs2100423871	RCV003458280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Pathogenic; Likely pathogenic	rs587777893, rs2100566800, rs2100477650, rs587777894, rs587777900, rs1057519914, rs1057519779, rs786205165, rs1085307113	RCV001837028 RCV001837032 RCV001837036 RCV001836736 RCV001836737 RCV005251085 RCV001836813 RCV001836814 RCV001836815 RCV001836816 RCV001836827	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Pathogenic	rs863225264	RCV001256976	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Pathogenic	rs863225264	RCV001003568	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal facial shape	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormality of the skeletal system	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SMALL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOCRINE SYSTEM DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA, TYPE II	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILD DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder, MTOR related	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroendocrine pancreatic tumor	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ 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
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ 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	18199958		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21973240, 26892465, 28295182, 29076004, 30795552		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	23733802, 30760308, 31080770		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18715846		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21040950, 23728071, 23773481, 28025080, 28831205, 30171261		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	18413730		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	23599173		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22286903, 26023239, 28152510, 29384143, 29463039, 29484434, 30132978, 30171261		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	LHGDN	19121088		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	21956714		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18351386, 23773481, 24763434, 27267848		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18351386		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23773481, 26033966		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	24763434, 31471457		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	22320958		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	24891456		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20154675, 21447639, 25666752		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	30838516, 31561992, 35279598, 36320101	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	31561992		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	31090940		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21946537, 21973240, 26892465, 29076004, 30795552		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	20505189		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	16912221, 28952842		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	24312415		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	27473087		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19648884		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25402633, 27174915, 31492956		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	29077243		★☆☆☆☆ Found in Text Mining only
Adult Type Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	22871496		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28918027		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	21956714, 24891456, 26683340		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	26011570, 37118353	Associate	★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	LHGDN	18276609		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	28886863		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	25439321		★☆☆☆☆ Found in Text Mining only
Alternating Exotropia	Alternating exotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	28936961		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19210572, 22873724, 23585566, 24252508, 24735980, 25119265, 25791428, 25992776, 28922161, 29848382, 32233750, 33834692, 35178230, 40141059	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	18826385		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	18826385		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	22977662, 32719259	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	26489398		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25119265		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23851366, 28980850, 29901635		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	36271102	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	Pubtator	36722478	Associate	★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	21149330		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28270414, 28386356, 29571225, 31116585, 31136010, 31444939		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	30918329		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	28192480	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	28238805		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	30220708	Associate	★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	18292222, 24558502, 29653868, 30744877		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	29769264		★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	22791333, 26434588, 27797585, 28302901, 28697195, 29369972, 30760308, 31080770		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	31290289	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	30480741		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	35551459	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	35443723	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	20460539, 26213847, 29384525, 30696953, 31215251, 31467540, 31672935		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	29914932		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	25862984, 31053780	Associate	★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	28734155, 30787878, 31053780		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	28656223		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	27394642, 36555139	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	28213405		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	33833411	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	21956714, 24891456, 26683340		★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Argininosuccinic Aciduria	Argininosuccinic aciduria	Pubtator	31796844	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29520165, 29605039, 29629115, 30259816, 30590134, 31080547, 31173218, 31728028		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	35343049	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31011190		★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	36328206	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18821679, 29768212, 31028998, 32510258, 32867828, 34558072, 34911836, 35456453, 35835748	Associate	★☆☆☆☆ Found in Text Mining only
Asthenia	Asthenia	Pubtator	20630061	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24312355, 30654047		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	29956778	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	18226172, 20133820, 21228927, 22627626, 23592488, 24913039, 25227171, 27106762, 27608415, 27625244, 30509037, 33448156, 38217295	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	23733802, 24507694, 26173783, 27106762, 27226234, 27797585, 28386314		★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	28715695		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27203213, 27821800	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24713582, 29668625, 32377692, 39198757	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29520165, 29605039, 29629115, 30259816, 30590134, 31080547, 31173218, 31728028		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32940379	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	16916907	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	37149863	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	29157988		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	28582547		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	26239490, 26542245, 26770665, 26887912, 29296277, 34065644, 35422816, 37894820	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	37550884	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25311365, 27071790, 27640900, 28335463, 28360521, 30621732, 31007884, 31057483, 31133888, 31586563, 31828304		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19556253, 25898924, 27263037, 29203851, 31377403		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26770665, 29296277, 30705255, 31847491, 33564861	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18848473		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21145759, 25019278, 28242651, 29739666, 30609721, 31487268		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34065644, 40141059	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	31053780	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	27099149, 32206779, 35488725	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	27873163		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	35778969	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	19176689		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	18704194, 24112092		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	24920406, 25458080, 25744244, 27974663, 28104700, 28586054, 28693262, 28713934, 28713965, 28952842, 29050265, 29207056, 29750888, 30116377, 30193222, 30450663, 30569175, 30664155, 30806286, 31181779		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	18413730	Associate	★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	36461712	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	23567018, 23733802		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29456672		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	27394642, 37108591	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	28544747	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	25726893, 33765445	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19261747, 20354165, 23270926, 25349966, 27143856, 27777073, 28427860, 28978086, 29375709, 30560585, 30563829, 31167517, 31199921, 31789387		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	30220708	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	34924185	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	28532580		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	19648884, 25793716, 27765615, 30205378	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	27809291	Associate	★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	34874800	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28969385, 31639285, 33833411	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	31173224		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15010827, 15805275, 21896734, 23733802, 23948902, 24861491, 28292440, 29259984, 30467464, 31712311		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23180004, 24374956, 26410082, 26722465, 32843426, 38065968	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	29424922	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12554765, 15585641, 19778445, 20953835, 20978191, 21266827, 21358673, 22461124, 22484424, 22960556, 23000059, 23089982, 23267124, 23503572, 23603342, 23636418, 23675882, 24275666, 24887419, 25023728, 25189767, 25320355, 25361981, 25744729, 25884680, 25972244, 26151180, 26707081, 27314662, 27533457, 27563814, 27649142, 27721400, 27746162, 28272775, 28301598, 28468774, 28580868, 28582508, 28639903, 28746253, 28762135, 28854163, 28991258, 29556324, 29568883, 29684618, 30114709, 30154412, 30154572, 30197358, 30206213, 30368861, 30442335, 30518157, 30555244, 30678711, 30796030, 30808819, 31062358, 31281438, 31359335, 31408722, 31456190		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16109716, 16288304, 16648488, 16859513, 17121430, 17429139, 17631500, 17726467, 18386830, 18652687, 19016759, 19925796, 20007781, 20459645, 21268715, 21278786, 21730367, 21869603, 21897387, 21963359, 22043997, 22454081, 22562547, 22613768, 22952423, 23071863, 23242584, 23341997, 23389114, 23974095, 23991038, 24131622, 24344117, 24359639, 24444656, 24457069, 24467828, 24498881, 24501006, 24599592, 24714122, 24887419, 24895461, 25108739, 25115395, 25333576, 25361981, 25460505, 25733818, 25771071, 25816324, 25834401, 25884680, 25886003, 25928145, 25972244, 25993174, 26000884, 26011570, 26192233, 26342198, 26464650, 26577839, 26698305, 26707081, 26865587, 26984519, 27081168, 27094578, 27097161, 27314662, 27421652, 27533457, 27553366, 27617288, 27991928, 28027327, 28122379, 28446508, 28459209, 28550065, 28582508, 28727815, 28987049, 29103666, 29128895, 29328395, 29408595, 29453318, 29614812, 29863252, 29949674, 30050147, 30154572, 30652258, 30678711, 30862719, 31189691, 31317673, 31371343, 31385461, 31467112, 31710162, 31747912, 31771139, 31799667, 31899608, 31991851, 32239160, 32271426, 32313717, 32377271, 32541902, 32558176, 32682817, 32807213, 33146288, 33224971, 33275232, 33311440, 33545220, 33599863, 33669698, 33772001, 33861751, 33867824, 34221232, 34268930, 34293053, 34330319, 34455425, 34620747, 34762647, 34837929, 34983878, 35053341, 35082928, 35122700, 35170195, 35294039, 35317849, 35322748, 35413842, 35414770, 35541896, 35564499, 35639264, 35649067, 35684480, 35732329, 35757841, 35799892, 36043466, 36135836, 36193308, 36292649, 36329030, 36692465, 36792625, 37052042, 37081542, 37204251, 37209192, 37220224, 37501598, 37589705, 37682166, 37834269, 38216268, 38531793, 38553373, 39300116, 39945739, 40038752, 40481104, 40555003	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	40696656	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	27280636	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	20526286		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	22241218, 28465297	Associate	★☆☆☆☆ Found in Text Mining only
Calcification of Joints and Arteries	Calcinosis	Pubtator	32375544	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	32375544	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	20530556, 25275598	Associate	★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	17996122, 18790744, 20530239, 20658316, 21159649, 21245298, 21387259, 22110663, 22146979, 22320958, 23209702, 23544944, 23626817, 23686804, 23940798, 24244612, 24294361, 24504440, 24593867, 24655477, 25388238, 26163618, 26374334, 26894601, 27097161, 27246909, 27589846, 28446188, 29259266, 29424922, 29902261, 29921292, 30092789, 31638221, 31750884, 31773361, 32218702, 32239181, 32348753, 33123313, 33227411, 33752745, 33771982, 33867824, 34026291, 34531523, 34830011, 35247260, 35592706, 35699794, 36000536, 36822623, 37248471, 37686205, 38177295, 38241371	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	20817788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18351386, 20102778, 21040950, 23548153, 25701229, 26901143, 27017985, 28952411		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22648906, 24422672, 26479291, 26502919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	32869263	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	19055754, 25181405, 28573224, 31128046	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17329400, 17996122, 20501828, 21878637, 22408571, 23785399, 24312415, 24516705, 24643969, 24800850, 24931142, 25063062, 25310259, 25424347, 25537506, 25778319, 26078356, 26165487, 26756219, 26799423, 26901106, 27050147, 27468214, 28284560, 28333142, 28402954, 28442344, 28445971, 28560380, 28624790, 29246230, 30177727, 30390677, 30526568, 30650598, 30917505, 31196153, 31364110, 31524260, 31796646, 31796844, 32083568, 32197467, 32369692, 32466169, 33219302, 33293585, 33362215, 33628104, 33816616, 34016142, 34076140, 34114395, 34311471, 34348664, 34366322, 34410900, 34522186, 34790050, 34837478, 35293266, 35313850, 35412944, 35449837, 35547764, 35562734, 35592706, 35729702, 35769514, 35840921, 35977595, 36062301, 36157928, 36374212, 36416062, 36439183, 36447138, 36495345, 36588796, 36717584, 36748193, 36809979, 36822623, 37008632, 37211171, 37543832, 37547758, 37949877, 38177295, 38468074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29694502	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	16341149	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26657114	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26718977	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	20817788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	24262658, 37311987, 38241371	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	29419396, 33479203	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19261747, 20354165, 23270926, 25349966, 27143856, 27777073, 28427860, 28978086, 29375709, 30560585, 30563829, 31167517, 31199921, 31789387		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	22322846		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16159415, 18566221, 18692155, 20647329, 23237220, 24931608, 26206305, 26359452, 26780363, 28577112, 29374181, 30132978, 30171261, 30362635, 30825612, 30887599		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19240722, 31234823, 33947352, 37115089, 37276925	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23437362, 25079376, 30261145, 34771150, 35699794, 38037549	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17440983, 18283322, 19061835, 19118035, 19473483, 20190810, 20462447, 20679884, 20830770, 21644050, 21834980, 21881486, 22542128, 22549432, 22938451, 23209702, 23219378, 23378641, 23764071, 23824745, 24226526, 24496460, 24504440, 24618616, 24622468, 24797175, 24862756, 24886512, 25183163, 25186283, 25784113, 25884680, 26134285, 26224474, 26255626, 26261493, 26313261, 26506236, 26537073, 26937175, 27026382, 27279483, 27574806, 27712594, 27741505, 28068944, 28713889, 28849086, 29118224, 29132830, 29389967, 29424922, 29610387, 29754934, 29941307, 29975249, 29979351, 30016766, 30256787, 30303819, 30368665, 31485634, 31891870, 31975504, 32279409, 32299640, 32356935, 32616874, 34002003, 34194607, 34358517, 34439859, 34512796, 34531523, 35122417, 35314433, 35444164, 35788771, 35857801, 36142502, 36209249, 36313180, 36429034, 36470859, 37047421, 37088333, 37095531, 37298315, 37365941, 37416763, 37460463, 37541245, 37642220, 37801481, 37938323, 38273861, 38588851	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	20817788, 26045808	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19090006, 20360610, 21986939, 22389437, 25426553, 28730764, 29902261, 29980281, 30318447, 34874800, 36305267, 36357817, 36897548, 37248471	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	25181405, 29550418		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29938004		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20081105, 21744334, 23591839, 25193855, 26023849, 29401696, 30272366, 30387804, 31411791		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	22871496		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28230637, 31492659		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34607910	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30705255	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	25708222	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28216152, 30843672		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24879147, 28765952	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28797827, 30305865		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	15958502		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	22883423, 32052902, 36035226	Associate	★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	35655778	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27911920		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	36271348	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	29063352		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	32612145	Stimulate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	34209150	Associate	★☆☆☆☆ Found in Text Mining only
Central Apnea	Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28625574, 30489210		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31923616, 32960689	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	28915727		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27340022, 28823492, 29484389, 31100427		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	29473507		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	18058806		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	20102778, 24853425, 26201060, 30623680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	20102778, 24853425, 26201060, 30623680		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	21973240, 26892465, 29076004, 30795552		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	29956778		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	24312415		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	19648884		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25402633, 27174915, 31492956		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	19147772, 21874010, 23832540, 24587347, 24867389, 25536104, 27206490, 28422725, 28694672, 31360102, 31638221, 32173382, 37219012, 37369494	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	23544944	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	23760978	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	22761648, 29397960		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	29576625	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	19401700, 19570961, 19648884, 30216418	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	19648884, 21099719		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34220309	Associate	★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	27702670, 27873163		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24056770, 24226526, 29357413, 31540400		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28192408		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	24290217		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29507104, 30692212		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	23028762, 39256343	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	20607654		★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	20607654		★☆☆☆☆ Found in Text Mining only
Clear cell adenocarcinoma of ovary	Ovarian adenocarcinoma	BEFREE	23899586		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	25811348, 28549248, 30478013		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	35693826	Associate	★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	30359003		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	24806451, 24899720, 28816239, 29674181, 30564080, 31217051		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26239490, 26542245, 28050343, 33619909, 33765445	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27863380, 28740109, 30132862, 30170968		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23773481, 24970012, 26879868, 28759045, 28784537, 28972559, 29344654, 29921885		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	26261591, 28179590	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	20622004		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	20622004, 25388238, 25885658, 28811711, 29882195, 31266264, 34135408	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19351759, 20663899, 20803081, 22245873, 22270257, 22320958, 22552366, 23475782, 23773481, 24393708, 24619662, 24763434, 24764656, 24770722, 25123131, 25776026, 25776475, 26363527, 26381179, 29328379, 29344181, 29800814, 29845289, 29867114, 29978469, 30662620, 30913881, 31423233		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18351386, 19351759, 20421047, 20622004, 21430067, 21946537, 22320958, 23743569, 23899692, 24724981, 24936148, 24969890, 24970012, 25637165, 25714871, 26097572, 26259252, 26261591, 26517354, 26729093, 27078027, 27095166, 27296289, 27435399, 27461218, 27814614, 28615517, 28972559, 29103204, 29257307, 29448085, 29505855, 29921474, 30226533, 30468657, 30481508, 30853664, 30896869, 30941959, 31357480, 31485623, 31519156, 31596728, 31736063, 32271416, 32388500, 32580297, 32601379, 32608200, 32631392, 32962206, 33314691, 33582655, 33632293, 33846805, 34219464, 34376787, 34512817, 35208943, 35416128, 35440604, 35536149, 35595748, 35638907, 35655161, 35676246, 35883111, 35900274, 35907820, 36030982, 36147460, 36264073, 36293209, 36675180, 36768934, 36879117, 37100467, 37227305, 37340282, 37347740, 37416772, 37568037, 37821801, 39291655, 39337548	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19731079		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25487926	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	35638907	Associate	★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	29296277	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	BEFREE	30626204		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	19761448, 25833943, 26637437		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	30326494		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	25322685		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	29216632		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	20830240, 29246172, 32157856	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	24645945, 27691052, 28787272		★☆☆☆☆ Found in Text Mining only
Congenital Lipomatous Overgrowth Vascular Malformations and Epidermal Nevi	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Pubtator	28502725, 34074347	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	35346221	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21631421, 29525650, 30321448, 31650481, 31746373		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15956968, 16336094, 17935273, 18391590, 19470934, 19473483, 20437403, 20830770, 21330923, 21346035, 22125056, 22229848, 22807514, 23173671, 23548153, 23571736, 23867512, 24091619, 24495452, 24862756, 24935000, 25884680, 26114873, 26208877, 26255626, 27387559, 27526062, 27574806, 27751729, 27863441, 27939075, 28068944, 28107584, 28257457, 28276433, 28314474, 28549248, 28676933, 28756136, 28952411, 28971328, 29115429, 29120911, 29158991, 29323560, 29408183, 29451277, 29702156, 29719377, 29754934, 29851529, 29975249, 30158285, 30256787, 30308518, 30478013, 30513765, 30771617, 31031856, 31080770, 31155438, 31335987, 31465470		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	36342087, 37946310	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30450663		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29267258		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32557866, 35733129	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	32557866, 35619068	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	16912980, 25833943, 25878179, 28969385, 29338461, 29476105		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	22729223		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	21483870	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23962154, 28740109, 31489956		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	18067639, 29792909		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	31531061		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	19293384, 28794469, 31664087, 31992345	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28794469		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	22125056, 28007903, 28600153, 29717938		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	22125056		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28043938, 28696356, 28981117, 29039501, 29207056, 29991473, 30408629, 30792936, 31472145, 31588359		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28807816, 31066320		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	27750396	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	25726893	Inhibit	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27490818, 30196309	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28259097, 28610917, 29161812, 30317677		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	23261523, 27490818	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31167146, 31605740		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	32922169	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	30876376	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29274665		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	29792909		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	23922674	Associate	★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	26818518		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23644232, 28288694		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29296277, 34197453, 36095197	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37550884	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21613414, 22388550, 22749019, 24226526, 28283069, 28606928, 28625574, 28923179, 28971989, 29424687, 29768134, 30317878, 30572003, 30651870, 30684442, 30729392, 30755615, 31280658, 31661292, 31722960		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33620957, 33826986	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20739737, 23061800, 24797175, 33065976, 35788771, 35804402, 37340541, 39198757	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21613414, 22388550, 22749019, 24226526, 28283069, 28606928, 28625574, 28923179, 28971989, 29294366, 29424687, 29768134, 30260594, 30317878, 30572003, 30651870, 30684442, 30729392, 30755615, 30843672, 31135975, 31199578, 31280658, 31661292, 31722960, 31794280		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36476132	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32221364, 39464889	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25867326, 31993556, 32978410, 34502231, 39198757	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29518770, 29845333, 30651870		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15653324, 19286253, 21289241, 22068611, 22354785, 25867326, 26148588, 27986865, 28477532, 28540646, 29473507, 29702558, 29908010, 29916537, 30251691, 30773997, 30939476, 31328833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	29845333		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	24797175, 25867326, 31895808, 36476132	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31281543	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25867326, 28393693, 29246323, 29890551, 30637733, 30746698, 31389583, 31390845, 31828168		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	31758725		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	25997411, 38194422	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	29207163		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16912221, 23292937, 25458080, 28952842		★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	29259266	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	24735980, 31332166, 33633844, 35222360	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24918639, 28807816		★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	34082790	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	22753408, 29992529		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	28230638, 30728465, 31728028		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	35899893	Associate	★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	25623440, 28289671		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	31808620		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29274665		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	25637161		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	25005575	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26637437, 26758984, 29246093		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	24131622, 24467828, 27196739, 28577281, 31710162	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine System Diseases	CTD_human_DG	29384525		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16443261, 19484784, 21168492, 21952748, 22920721, 22955108, 24166148, 24651628, 30442683, 31808620		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	17466036		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	17466036	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	18563337		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19107520, 19878980, 21228924, 21734474, 22252099, 22393970, 22920721, 23674493, 23851675, 24651628, 25154549, 25487944, 26135947, 26485755, 26794276, 27259051, 27409342, 27654259, 27745917, 28427207, 28886696, 29081412, 29182407, 29449346, 31646808, 31808620, 32107418, 32239181, 32908897, 33577023, 34278450, 34831139, 35259044, 35635082, 37176048, 40058870	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	24319109		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	16884363		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30387804, 31649622		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30387804, 30566420, 31014943, 35173685, 35401535	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	29371918		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	34536484, 34924185	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	30220708, 40674414	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	26505888, 27208208, 28406046, 30911571		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19817806, 23136410, 23437388, 23644232, 25591831, 25599672, 26302787, 26637437, 26706013, 26732600, 27340022, 27566410, 27739368, 28199306, 28229367, 28386314, 28406046, 28643873, 28966575, 29203851, 29246093, 29338461, 29359340, 29476105, 30037344, 30079598, 30103955, 30132243, 30414531, 30700531, 30911571, 31377403, 31547370, 31564412, 31605778, 31625153, 31722960, 31752127		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25005575, 25599672, 27566410, 27750396, 33208499, 33619909, 33833411, 35355055, 37263295	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34417327	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	29331082	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26732600, 28390940, 29331082, 30747999		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28892148		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	26637437		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	20075061, 20686448, 29615724, 30523303, 31042058, 31625572		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26023849, 30272366		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	18413730, 23206445, 29805658		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	18413730		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	19020730		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19164214, 22841170, 26357655, 28487599, 28631572, 30098109, 30368517, 32104700, 35315581, 35920446	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22841170, 23524405, 26357655, 26722465, 27749841, 28665915, 29463194, 29916308, 31558183, 33460563, 34190001, 34841952, 35662041, 35904643	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	30570876	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	14681687		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	CTD_human_DG	29384525		★☆☆☆☆ Found in Text Mining only
Familial cold urticaria	Cold urticaria	BEFREE	29587559, 29996117		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	25181405	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	26336083	Stimulate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18413730		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23538752		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	33423298	Associate	★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23538752		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	26077338, 29615085	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27492505, 31604805		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	20607654, 30469530		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	29241828		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	19622772		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	BEFREE	18292222		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31835352		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	26018084, 27159400, 28215400, 29359340, 29945038, 30700531, 31625153		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	19817806, 25599672, 26779999, 27323939, 28879901, 28969385, 29359340, 30414531, 30700531, 30901081, 31625153		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	25005575, 25599672, 27811355, 28260047, 28879901, 31353856, 32785072, 34003514, 34135202, 35355055, 35587487, 36461712, 36864519, 37574648, 37749503, 40674414	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	20345941, 27566410, 34003514, 35706131, 36342087, 36864519, 37946310, 40674414	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	BEFREE	25799227, 26779999, 26840044, 29945038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	UNIPROT_DG	25799227, 25878179, 26018084, 27830187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	GENOMICS_ENGLAND_DG	25878179, 27159400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL CORTICAL DYSPLASIA OF TAYLOR	Focal cortical dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Cortical Dysplasia of Taylor, Type IIa	Focal cortical dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia of Taylor, Type IIb	Focal cortical dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC	Focal cortical dysplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	28720684, 31377057		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	28720684		★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	28374905	Inhibit	★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	24512487		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	BEFREE	30278995		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	25363469	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	23544944, 24867389, 26287365, 32925281	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	23941441, 28879901		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26287940		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	26317520	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	30057669	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	32863943	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	28777148		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	16916320, 24289602, 26617858, 33603171, 36921738	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	20043176, 28777148		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	25907832, 36498937	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	31519738	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	26956871		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	29792909		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28499984, 31274018		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16199861, 16242075, 17921698, 19458076, 19587783, 21367753, 21460795, 22125077, 22156546, 24048798, 24498019, 24658109, 25070489, 25629604, 26940200, 27325206, 28351321, 28418837, 28424411, 28869437, 29328863, 29780826, 30943918, 31009513, 31114156, 31195027, 31285369, 31575848, 32265299, 32604996, 32705169, 32770935, 33245508, 33752745, 33762574, 34065350, 34763650, 34768941, 34831287, 36499275, 36999945, 37061119, 37594082, 38065968, 38376284, 38385470, 40490203	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	LHGDN	16242075, 16818690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	16912159, 18215105, 18559622, 20861085, 22015553, 22125077, 23440206, 26341051, 27226604, 28351321, 28418837, 28569781, 28889246, 28969371, 29126203, 29313954, 30371540, 30662577, 30771196, 31117874, 31414301, 31473880, 31510109, 31541850, 31618458, 31712311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	15998902, 16912159, 18215105, 18559622, 20861085, 22015553, 22125077, 23110505, 23440206, 25798620, 26341051, 27226604, 28351321, 28418837, 28569781, 28889246, 29059166, 29126203, 29259984, 29313954, 30371540, 30662577, 30771196, 31117874, 31414301, 31473880, 31541850, 31618458, 31712311		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18701474, 21062993, 21896734, 23152448, 28292440, 28351321, 29143563, 30402851, 30609184, 30942446, 31324855		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18759130, 19176518, 19416948, 19661320, 19671762, 19705067, 19827268, 22753230, 24395351, 24470557, 24984002, 25854175, 26617839, 27893811, 28351321, 28440461, 28759011, 28759109, 29022195, 29328863, 30402851, 31053160, 31171914, 31195027, 33125147, 33318517, 33676540, 34068110, 34102393, 34648907, 34768941, 34994387, 35287169, 36852158, 36999945, 37796789, 38065968, 38569452	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	31658846	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	31485275	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	29567961, 31485275, 31534053		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	20200450	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	30765325		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	32051464	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	31941945	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	24226526, 38033740	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31012209		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	16410300		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31514750, 35997716	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	19509067		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	15624019, 18292222, 19177005, 19286253, 28351834, 30242175, 30290005, 31752127		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	15835270, 20833335, 31489956		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	29605470		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	21421338, 31657099		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20513033, 22577058, 23408298, 26895469, 27374971, 28122379, 32628350, 33065976, 33482765, 34681918, 37486536, 39695576	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	27048565		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37149863	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21631421, 29525650, 30321448, 31650481, 31746373		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	23298485		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	39286286	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	22648906	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	23938603		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	17075574, 19535348, 24586420, 33065976	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	18300753, 20844237, 29345570, 31253398		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	19804889, 22729223, 23449172, 25599672, 25833943, 26542245, 27323939, 28427592, 28969385, 29359340, 30414531, 31411685, 31444548, 31625153		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemimegalencephaly	Hemimegalencephaly	GENOMICS_ENGLAND_DG	22729223		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemimegalencephaly	Hemimegalencephaly	Pubtator	22729223, 23319189, 25599672, 26542245, 28864461, 31444548, 35441233, 35997478	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemimegalencephaly	Hemimegalencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemimegalencephaly	Hemimegalencephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	Hemophagocytic Lymphohistiocytosis	BEFREE	29800735		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33822054	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	20630061	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29088718, 31511432		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	31541079	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	20041408		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	17616457	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16648488, 21574647, 23620408, 24811059, 26577839, 28582508, 29453318, 36539038, 36916425	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	29103956, 30744607		★☆☆☆☆ Found in Text Mining only
Hereditary hemorrhagic telangiectasia	Hereditary Hemorrhagic Telangiectasia	BEFREE	28224235		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	27473087		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31622602		★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	Pubtator	25878179, 36461712	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28162859		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	23626817	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	30726893		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28330474		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	35804402	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	27658659, 29273609		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19258434, 28808420, 29781726, 30908696, 30944270, 30982794, 31625631		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	35804402	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	24645945, 25518065		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	37946310	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	17466036, 20526286, 30591517, 38223571	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	29701925	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	19289642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	28827472, 29366595, 29846113, 31378107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29525650, 31722741		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29525650		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	19351384, 21212465, 28550180, 35716147	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	31118410		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	32157856	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	29146131		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12242281, 15802268, 18351386, 18566221, 19416948, 21048308, 21881486, 23681233, 25181405, 25887043, 26193287, 27211906, 31796646, 32427827, 33371356, 34637697, 34999917, 35283481, 35413842, 36157928, 36674750, 37246768	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16648488, 24301659, 25988388, 26078356	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17379067, 18953439, 26097572, 27078027, 28115701, 31222863, 35626732, 35671789	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	27381825		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	31354493		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26017061, 27006450		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24728102, 25358403, 29563341, 30602778, 31710517, 37099633, 39745695	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29518028, 30765508		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31485275		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	17016437		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23644232, 24806451, 24899720, 26542245, 28810557, 28816239, 29674181, 29702026, 30086367, 30564080, 31217051, 31794280		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	28485322		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	23408345, 23938603		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	26637437		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	26637437		★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20042677, 26026060, 30132862, 30889246		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	24301659, 25569743	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31167146, 31605740		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	15380067, 17986714, 17993646, 20809949, 22457523, 29207074, 34646087, 36325267, 37594055	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	27873163		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	25518065		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23348097, 26542245	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	25851998, 25898924, 26542245, 27159400, 29338461, 30569621, 31217257		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27159400		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	37550884	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	29518770, 30716534, 33846806, 34554926	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30716534		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	29518770		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	32235767	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	20190810	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	33574968	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29127238		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26647915, 27935582, 29503609, 29710456, 31100427		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	21712346, 29228674		★☆☆☆☆ Found in Text Mining only
Isolated focal cortical dysplasia type IIa	Isolated focal cortical dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Isolated focal cortical dysplasia type IIb	Isolated focal cortical dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	28506734, 30902727, 31305263		★☆☆☆☆ Found in Text Mining only
Kaposiform Hemangioendothelioma	Kaposiform Hemangioendothelioma	BEFREE	30044355, 31489702		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	29862167		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	24112608		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	31257986		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24226526, 28417246, 28971989, 29369972, 30510618, 30726893, 31810732		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24226526, 31485275, 34607910	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	35908957	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30487750, 31148231		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	24226526, 26061549, 30918132		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	23733802		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	20973793, 21886838, 24797175, 28713889, 29172931, 29424922, 30003754, 31717694, 32251007, 32668608, 34521993, 34538873, 34802045, 35240013, 35399832, 36097292, 36816543, 36849137, 37365941, 37938323, 38002360, 38599381	Associate	★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	HPO_DG			★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27119232	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	19289642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28230637, 29797568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh Disease	Leigh Syndrome	BEFREE	31386302		★☆☆☆☆ Found in Text Mining only
Leigh syndrome French Canadian type	Leigh syndrome	Pubtator	30995105	Associate	★☆☆☆☆ Found in Text Mining only
Leigh syndrome , French Canadian type	Leigh syndrome	BEFREE	30995105		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	26820714	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	21326806, 22080063, 23532091, 33788262	Associate	★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	23673659, 31722741		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	25708222	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15922966, 16141350, 17179228, 17485551, 18048359, 19375649, 20616057, 21946537, 23573198, 24178622, 24244612, 24610825, 24714637, 25034786, 26542945, 27821800, 30185437, 31922221, 32782381, 34223631, 35986270, 37280363	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16305491, 26473447, 26765787, 27018341, 27071307, 28259993, 29401696, 31404320, 31537694		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18704194		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	26496029, 26891668, 34109436	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15550488, 16304046, 16939811, 17259349, 17878402, 19535348, 20505189, 21067588, 21336564, 23077663, 23919981, 23955073, 24008673, 24404189, 24610825, 24739393, 25257528, 28361855, 29208365, 31954876, 32993794, 33375770, 34502231, 35240791, 35490271, 36259537, 36413544, 37313984, 39273530	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26397153	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19250671, 19320940, 20668229, 20884625, 22349414, 23535559, 23733802, 24014241, 25322685, 25598437, 25823922, 26473447, 27071307, 28342808, 28537457, 29276026, 29345570, 29382066, 29607465, 29889583, 30699367, 30760308, 31080770		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	29077243		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	15835270		★☆☆☆☆ Found in Text Mining only
Lichen planus follicularis	Lichen planopilaris	BEFREE	30278995		★☆☆☆☆ Found in Text Mining only
Lichenoid Eruptions	Lichenoid Eruptions	BEFREE	28224235		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	19435901, 28574664, 29996471		★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	35290761	Associate	★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	BEFREE	24366516		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	24366516		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	26518767, 30654529	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	23673410		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17318075, 18824293		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17483347, 18722373, 19085954, 19301157, 20501828, 20637208, 21093415, 21725613, 21735472, 21835141, 21878637, 23134470, 23457035, 24312415, 24643969, 24804240, 24910242, 25131770, 25656579, 25909713, 25980751, 26239364, 26389641, 26879559, 27167192, 27611696, 27974549, 28065789, 28195035, 28199961, 28334043, 28346420, 28366631, 28445971, 28668827, 28715695, 28881582, 28901501, 29037858, 29220539, 29360358, 29710388, 29729190, 30056112, 30469530, 30552782, 30650598, 30794695, 30951815, 31214512, 31216956, 31277283, 31335281, 31427562, 31663122		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21147110		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	20607654, 27687505		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25537506	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36457007, 37863651	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	15623621		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	28302097	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30469530, 31216956		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	28499984		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19060845, 26468985, 29328793	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	23983265, 30728465		★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24571487, 35016744	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15802268, 17616691		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16380505, 18566221, 18585380, 19090006, 19176399, 19654299, 20093977, 20447721, 21392382, 21618507, 22057915, 22673193, 23213057, 23226337, 23237220, 23319332, 23443799, 24571487, 24593867, 25673697, 25982012, 26206305, 26464663, 26498922, 26780363, 26974543, 27009856, 28028034, 28035061, 28716898, 29130967, 29504919, 29530932, 31013639, 31485626, 31817720, 32436415, 33158043, 33455947, 33839363, 33846781, 33865336, 33921340, 34007784, 34074205, 35226448, 36211008, 36234769, 36500361	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21576264, 30665937		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24838270, 30105526	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	18980674, 19201859, 24128087, 28639951, 28841779, 30060081, 30787878, 31142473		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19201859, 22549432, 23913957, 24683191, 25339666, 26526985, 28284231, 29161463, 31805010, 36197220	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	18980674, 19201859, 24128087, 28639951, 28841779, 30060081, 30787878, 31142473		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18980674, 19201859, 19584730, 20001421, 20014960, 24128087, 25862984, 28242651, 28284231, 28639951, 28841779, 29161463, 29551338, 29739666, 30060081, 30787878, 31142473, 31796213, 31831256		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	18980674, 28849060, 31358596, 31733722		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	26526985, 37147021	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	18980674, 19201859, 24128087, 28639951, 28841779, 30060081, 30787878, 31142473		★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	18094073, 18184959, 19395678, 20630348, 23983265, 25347447, 25844891, 26713679, 27409646, 28096282, 28623674, 28823029, 28972182, 28993539, 29208258, 29339522, 29758070, 31437431		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19090006, 20817788, 21387259, 25035961, 26097572, 26317520, 27533457, 28005970, 28032929, 28665915, 29463194, 35616137, 37115089	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22320958, 32023262	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28665915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic Metastasis	CTD_human_DG	30705370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Lymphedema	Pubtator	34170046	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16912221, 25458080, 30628637, 31135975		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	17690253, 24586420, 25590803, 26917778, 34074205, 35184749	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	16912221, 17855629, 19321861, 27267853, 30720463, 37176048, 37899130	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	16912221, 27267853		★☆☆☆☆ Found in Text Mining only
Lymphoma, Lymphocytic, Intermediate	Lymphoma, Lymphocytic, Intermediate	CTD_human_DG	17148679		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	28971900		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	28971900		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	LHGDN	17075574		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	17075574, 35488725, 36254040	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	26153217, 26542245, 27159400, 27753196, 28502725, 28969385, 29447953, 30569621, 31441589, 31625153		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33172148, 34823219	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy corneal type 1	Macular dystrophy	Pubtator	19371356, 33619909, 40055364	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	25833943, 27208208, 27257021, 29481864, 31125447, 31625153		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	21635931, 23261523, 27590136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	21635931, 23261523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	19371356, 23586324, 25878179, 33619909, 34048549, 35587487, 35997478, 36226386, 40055364, 40127731	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	22729223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Malformation of cortical development	BEFREE	24615646, 25833943, 26523971, 29246093, 29279945, 29338461, 29359340, 29481864, 29937275, 30001510, 30901081, 31125447, 31625153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	24508774, 30717619		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	26479291		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17001313		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	21421338, 31657099		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	CTD_human_DG	17148679		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18339899		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	22080480, 28676933		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21774103		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	30542377		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12554765, 15958580, 19778445, 20953835, 20978191, 21266827, 21358673, 21961653, 22461124, 22484424, 22960556, 23000059, 23089982, 23267124, 23503572, 23603342, 23636418, 23675882, 24275666, 24887419, 25023728, 25189767, 25320355, 25361981, 25744729, 25884680, 25972244, 26151180, 26707081, 27314662, 27533457, 27563814, 27649142, 27721400, 27746162, 27974663, 28272775, 28301598, 28468774, 28580868, 28582508, 28615679, 28639903, 28746253, 28762135, 28854163, 28991258, 29212252, 29556324, 29568883, 29684618, 30114709, 30154412, 30154572, 30197358, 30206213, 30368861, 30442335, 30518157, 30555244, 30678711, 30796030, 30808819, 31062358, 31281438, 31359335, 31428575, 31456190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16443261, 19484784, 21168492, 21952748, 22920721, 24166148, 24651628, 31808620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	18413730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	14751088, 21886838, 22709692, 23209702, 26255626, 28762135, 29371637, 31007884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	18722373, 24312415, 24910242, 29729190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16159415, 18566221, 18692155, 20647329, 23237220, 24931608, 26206305, 26359452, 26780363, 28577112, 29374181, 29530932, 30132978, 30171261, 30362635, 30825612, 30887599		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	19435901, 28574664, 29996471		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20081105, 21744334, 23591839, 25193855, 29401696, 30272366, 30387804, 31411791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	20138251, 30705370		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10446965, 16213898, 22952422, 24461517, 24717934, 25143389, 26101222, 29384525, 29548696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17047067, 18339874, 18708577, 19523861, 19773438, 20127734, 20530556, 20940396, 22367541, 22546217, 22886792, 23940798, 24882582, 25906254, 26261538, 26323436, 27986349, 28615679, 28731173, 29250185, 29371637, 30200497, 30402678, 31010254, 31212374, 31262501		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30064826, 31228256		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22334453, 23555892, 25701378, 26287940, 26317520, 26520441, 29436606, 29721055, 29976242, 29978580, 30147110, 30866995, 31115533		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	19706758, 21289267, 22549934, 23828865, 25029414, 25854169, 26463583, 29757257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19261747, 20354165, 23270926, 25349966, 27143856, 27777073, 28427860, 28978086, 29375709, 30560585, 30563829, 31167517, 31199921, 31789387		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11357143, 11504908, 12939469, 14751088, 15010827, 15641016, 16159415, 16213157, 16443261, 17041627, 17353907, 17905659, 17968710, 18059028, 18300753, 18639543, 18708577, 18787170, 18829560, 18953439, 19138981, 19276368, 19372546, 19435890, 19509240, 19963098, 20042677, 20179189, 20392999, 20438709, 20622004, 20664174, 20844931, 21471201, 21956714, 22015553, 22080480, 22125056, 22125076, 22155350, 22178087, 22354785, 22367541, 22388550, 22474287, 22745583, 22749019, 22872574, 22886792, 22920721, 23233526, 23257898, 23322780, 23423739, 23489586, 23525575, 23530221, 23542178, 23555892, 23574530, 23642907, 23728071, 23773481, 23783557, 24018642, 24030871, 24100703, 24393708, 24474794, 24480319, 24816861, 24856037, 24882582, 25061101, 25082895, 25518065, 25578782, 25596749, 25776026, 25776475, 25798620, 25850623, 25980751, 26277543, 26287940, 26296882, 26297910, 26341051, 26432419, 26459571, 26577921, 26707081, 27015560, 27050906, 27176210, 27191687, 27240592, 27267853, 27319316, 27385486, 27465917, 27492819, 27533457, 27547865, 27630154, 27748764, 27860549, 27919208, 28069808, 28089905, 28109945, 28124577, 28126011, 28199306, 28228357, 28230639, 28238105, 28245124, 28283069, 28353628, 28417246, 28435223, 28453744, 28454119, 28465145, 28481292, 28577112, 28615679, 28619981, 28631525, 28653896, 28661070, 28693022, 28707282, 28708333, 28757207, 28793293, 28807816, 28808055, 28831205, 28853539, 28864640, 28991258, 29074462, 29088817, 29165795, 29216499, 29232555, 29259984, 29301334, 29311260, 29344181, 29351204, 29369971, 29434241, 29439772, 29461280, 29491094, 29530932, 29547614, 29567475, 29657089, 29722201, 29729190, 29772672, 29781726, 29845289, 29848950, 29892499, 29949919, 29980790, 30029480, 30056112, 30064826, 30117312, 30132978, 30226540, 30258985, 30323898, 30326670, 30572003, 30609721, 30654687, 30678711, 30699367, 30711744, 30728465, 30742544, 30754640, 30849634, 30864510, 30866419, 30881282, 30881508, 30887599, 30918329, 30928610, 31062368, 31075885, 31089971, 31148273, 31173218, 31199921, 31207499, 31209687, 31214512, 31228256, 31244112, 31277692, 31280658, 31316145, 31358596, 31408724, 31423233, 31459966, 31465220, 31547370, 31586300, 31618458, 31620236, 31641854, 31649622, 31659101, 31661292, 31722960, 31826695, 7671312		★☆☆☆☆ 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	19648884, 28991373		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	17332346		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20102778, 24853425, 26201060, 30623680		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23773481, 24970012, 26879868, 28759045, 28972559		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	24962339, 30654047		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	35458174	Associate	★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12813467, 15580312, 17631500, 17911267, 18612547, 18652687, 18787170		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21462085, 24887419, 28639903		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28777104		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	17148679, 18339899, 20844237, 22080480, 23580240, 24703244, 28676933, 28905990		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	20038218		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	24339792		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	21543427, 22343387		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17039417, 22313636, 24737380, 25193863, 27174915, 30244244	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21042217, 25402633, 27174915, 28748347, 31492956		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22212915	Stimulate	★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	BEFREE	28502725, 31729162		★☆☆☆☆ Found in Text Mining only
MEGALENCEPHALY, AUTOSOMAL DOMINANT	Megalencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15010827, 17914450, 18202806, 20173664, 22155350, 23383069, 24920406, 27167192, 28708099, 30918329, 31586300, 31740775		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17914450		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18323781, 18679422, 19078992, 21169255, 22194965, 22475322, 22553342, 22589389, 24483290, 25749517, 27631768, 28302097, 29214525, 30042328, 33450548, 33549048, 33922284, 34074205, 35788771, 36409827, 37539493, 37931033, 38295313	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33082316	Associate	★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	30471880		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	22426462, 28610844, 28923059, 33622177	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23406776, 24184974, 29982664, 30511495		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28610917, 29161812, 30317677		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30061532		★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	31119177	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	16123394, 18339627, 18511708, 21294125, 22065079, 24419422, 24762959, 31670317, 31709947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	LHGDN	18511708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	21358348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	CTD_human_DG	21358348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	18511708, 20839315, 21774103, 24419422, 28003305, 28389374, 28464864, 28704762, 31752449, 32708306, 34987640	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	16213157, 25909713, 28124577, 30814053, 30939476, 31794280		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	30917505, 30926763, 37488757, 40707828	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	20809949	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	21508135, 30917505, 33582655	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25909713, 30459740, 30469530		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	38636615	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30301738		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	31067781		★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	36496178	Associate	★☆☆☆☆ Found in Text Mining only
Mild depression	Mental Depression	PSYGENET_DG	23092918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MiT family translocation renal cell carcinoma	Renal Carcinoma	BEFREE	29702156		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19201859, 23913957, 32630532, 34065350, 36293209, 36457007	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24101601, 30471880		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30692212	Stimulate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	30267763		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	29755672		★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	26542245	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	23941441, 34255745	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23554211, 27031247, 28574664, 34082790	Associate	★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	29770442		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	23840053		★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	BEFREE	23356225		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12208757, 17016437, 19509276, 20686120, 21475253, 22215754, 24431075, 24761838, 24903015, 25197055, 25961916, 27919956, 29322846, 29731844, 29755672, 29997148, 30655872, 30712673, 31698452		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15319277, 19446321, 21541441, 22415553, 22556409, 23185517, 24586420, 24761838, 25034786, 25197055, 27144172, 27340936, 27765615, 28899456, 30396185, 30765325, 31564190, 31698452, 31985020, 32173687, 33416146, 35328342, 36053135, 36289430, 37239949, 37437037, 37470139	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17016437		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28130499		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	36078032	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	37498332	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	31028199	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	19535348	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31756785	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15790787, 16936779, 31404320		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29127238, 29652546		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35378513	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30450663		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30461220		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30901379, 32683410	Associate	★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	23673410		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19250527		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	19250527, 35747690	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20338061, 23987636, 25100829, 25165983, 25872765, 26795575, 27876891, 28256603, 28581676, 28644386, 29991129, 30915749, 31334669, 31696477, 33215427, 34224316, 34293937, 34783234, 35196205, 35342334, 35545406, 36075565, 37940975	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30582216, 31696477		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	26499488, 31786875, 36644819	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	23913957	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10749120, 11504908, 12271141, 12906785, 14560965, 15010827, 15624019, 15723049, 15805275, 16390278, 16818631, 16912159, 17001313, 17145879, 17148679, 17968710, 18094073, 18177819, 18215105, 18566221, 18598780, 19013721, 19033662, 19301157, 19320940, 19451225, 19509240, 19549709, 19622772, 19648884, 19773438, 19778445, 19843540, 19963098, 20054236, 20395440, 20637208, 20663899, 20670887, 20817702, 20833335, 20871262, 20889920, 20923864, 21062985, 21242970, 21266827, 21304509, 21383697, 21447639, 21462085, 21632450, 21725613, 21744334, 21813464, 21893937, 22045983, 22080480, 22125081, 22320958, 22441547, 22475322, 22484424, 22549934, 22828828, 22871496, 22872574, 22886792, 22907434, 22955108, 23206445, 23233526, 23267124, 23344033, 23440206, 23542178, 23555892, 23640975, 23644232, 23826249, 23851675, 23898069, 23899586, 23938603, 24065143, 24100703, 24403861, 24469052, 24512487, 24634386, 24708766, 24717934, 24795009, 24931608, 24991826, 25029414, 25082895, 25179843, 25295501, 25439321, 25458080, 25578782, 25762617, 25980751, 26026101, 26296882, 26426570, 26432419, 26459571, 26554892, 26765787, 26877155, 26934559, 27017985, 27057633, 27143856, 27184134, 27267848, 27355872, 27473087, 27498867, 27611696, 27625244, 27630154, 27632356, 27803295, 27977512, 28025080, 28043830, 28229367, 28231742, 28283837, 28351321, 28367235, 28368722, 28403126, 28410832, 28583723, 28615679, 28665915, 28730764, 28757207, 28759045, 28759109, 28811537, 28829592, 28963468, 28979143, 28979705, 29059166, 29079660, 29088718, 29132830, 29179444, 29212165, 29225800, 29262645, 29301334, 29371637, 29384525, 29395661, 29403037, 29461635, 29550418, 29657089, 29755689, 29757257, 29758070, 29789464, 29901097, 29938004, 29949919, 30117312, 30126252, 30230038, 30272366, 30291913, 30339792, 30344747, 30362635, 30387804, 30402851, 30483877, 30563829, 30614215, 30624667, 30650598, 30662577, 30719752, 30760308, 30793789, 30913881, 30918329, 31010254, 31052575, 31054940, 31132188, 31215251, 31260753, 31262501, 31277692, 31335281, 31437431, 31550560, 31561992, 31636463, 31647887, 31657099, 31672913, 31732667, 31766386, 31785230, 31808620		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	31257986		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18204792, 23644232, 23861877, 24806451, 27340022, 29424687		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	19648884		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15930297, 15953364, 18026138, 19425177, 21993994, 23585566, 23697980, 27492819, 29063293, 29481864, 29571732		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18630505, 19528451, 21225506, 21290341, 25134527, 26561783, 26821351, 33390782, 34565342, 39218026	Associate	★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	28283837		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	23029019, 23586324, 27008180, 28833756, 31219803, 31519738, 33065976, 34831346, 37488757, 38041405, 40141059	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21195169, 22388550, 23644232, 25850623, 27340022, 28143498, 28294542, 28493559, 28504198, 28807816, 29383655, 29416044, 29523769, 29990625, 30243986, 31219803, 31639492		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25898924, 29201571, 29447953, 29478616, 29635516, 30569621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	29228674		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	22178087, 23828865, 23840053, 23980085, 24441281, 25439321, 26934559, 27467970, 27981858, 28144395, 28286565, 28684922, 28746253, 28789352, 29124519, 29146887, 29212165, 29213282, 29242283, 29496694, 29509701, 29684618, 29794066, 30588264, 30624667, 30913132, 31527867, 31540509		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15805275, 19246520, 19410195, 21896734, 25092287, 25534823, 30931649		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	29982664		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	19246520, 19648884, 22259051, 24668609	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	29449635	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17596878, 20607654, 29615085, 29897151, 30298052, 30572788, 31835352		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16505118, 18316583, 19472407, 19513541, 19549709, 19789349, 20421816, 20871262, 21040950, 21601561, 22400071, 23525575, 23728071, 26360779, 26639561, 27775798, 28661070, 28789440, 29556324, 29614485, 30344747, 30362635, 30618730, 30640793, 30663221, 30796356, 30825612, 30942425		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	30705370		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	20607654		★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	BEFREE	24712572		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18460336, 23150676, 25108739, 26865587, 27314662, 28316325, 30862719, 33065976	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19296907, 20670887, 22466652, 23050969, 27307439, 27692982, 28974889, 29259984, 29548696, 29753771, 29896930, 30420624, 30609721, 30688487, 31722087, 31808620		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27245338	Inhibit	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	24597478	Stimulate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	34047002	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21362200, 28582508, 28793923, 29664714, 30154572, 31428575		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	24101601	Associate	★☆☆☆☆ Found in Text Mining only
Optic Disk Drusen	Optic Disk Drusen	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	15805275		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	30374901		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	26848537		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22883423, 26247939, 26972586, 27669541, 29255496, 29344651, 31460867, 36253872, 37820587	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	32052902	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	32519067	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31289211		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	23708516, 32620113, 40165324	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28834576		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23666471, 24840134, 26164004, 26530936, 28401012, 29045512, 29207060, 29387244, 30280766, 30655787, 31409554, 31752184		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24598996, 25512523, 26633383, 28791373, 29045512, 29510727, 29750154, 30092789, 30280766, 31340526, 31724536, 32054506, 32721630, 33146000, 33282634, 33378012, 34495871, 34696664, 34950224, 35579448	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	29087803		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	31649622		★☆☆☆☆ Found in Text Mining only
Ovarian Granulosa Cell Tumor	Ovarian Tumor	BEFREE	22871496		★☆☆☆☆ Found in Text Mining only
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15028555, 19020722		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20081105, 21744334, 23591839, 25193855, 29401696, 30272366, 30387804, 31411791		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	20138251, 30705370		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15028555, 20081105, 20607860, 21744334, 22110186, 23464458, 23554977, 24590896, 25151963, 25509983, 26045471, 26319900, 26894601, 26937756, 27211906, 27863372, 28141785, 28338172, 28537902, 29552771, 30267477, 30387804, 30556851, 30594550, 30610801, 30712414, 31175269, 31234823, 31477750, 31865146, 32521868, 32585451, 32958005, 33414447, 33947352, 34026291, 34162426, 34643088, 35130130, 35645119, 35658829, 35696596, 35732503, 35761259, 35840928, 35929918, 36114703, 36289203, 36308626, 36335987, 36484512, 36544104, 36670423, 36727938, 36849137, 37170915, 37254890, 37317670, 37317923, 37800814	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	19699613		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10446965, 16213898, 17968710, 22952422, 24461517, 24717934, 25143389, 26101222, 29384525, 29548696		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29384525		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	26683340		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17968710, 19190347, 20630061, 20664591, 22949936, 23662044, 24590896, 24936056, 25079376, 25632222, 25632225, 25793983, 26046375, 26978006, 27349387, 28591720, 29461595, 29978609, 30046371, 30261145, 30323244, 30411297, 30551529, 31005960, 31160355, 31590760, 31841183, 32371585, 32495867, 32705259, 33764366, 33779693, 33939664, 34461940, 34506537, 35283481, 35449152, 36149758, 36864505	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	17310129, 27349387	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ 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	24583924, 24810336, 29617677, 29757257		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	37704624	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	28122379, 31410193	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	30362515		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	28352668, 34054720, 36611251	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19118169, 20089925, 21228155, 26991235, 27263112, 29451215, 29523769, 29608948, 29686643, 29992529, 30112966, 30744070, 30905782, 30957634, 31185790, 31234232, 31309116, 31499060, 31611767, 31754998, 31811872		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26497684, 31180515, 36752535, 39218026, 39354865, 40141059	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31234232	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	22753408		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	34432732	Associate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	29902261	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	39904707	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	19648884	Associate	★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian syndrome	Pubtator	26520804	Stimulate	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	26026101, 29668485, 30633211		★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	15624019, 20833335		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	20154675, 21447639, 25666752		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	20154675, 23626817, 28122379, 31410193	Associate	★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	23895135		★☆☆☆☆ Found in Text Mining only
PIK3CA related overgrowth spectrum	Overgrowth Spectrum	BEFREE	31752127		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	27615706, 31665029, 35247260	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	26077033, 35122417	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	31186083	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	24851866	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	LHGDN	17102641		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	20075061, 20686448, 22388550, 28353628, 29615724, 30472374		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	20642692, 24935705, 28007903, 28341273, 29600752, 29615724, 31080770, 31578673		★☆☆☆☆ Found in Text Mining only
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Pubtator	33765445	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27911920, 28990055, 29344639, 29762821		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32785222, 36523600	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	29172931	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	24404189, 30570876, 35008095	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	25862984, 28734155, 31018220, 31808842, 31810732		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	28969385		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	Pubtator	33833411	Associate	★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	31018952	Associate	★☆☆☆☆ Found in Text Mining only
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	BEFREE	30278995		★☆☆☆☆ Found in Text Mining only
Prader-Willi-like syndrome	Prader-Willi-Like Syndrome	BEFREE	31685878		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	25576920, 28390196		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28390196		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	19246562		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21331075, 21968881, 28546582, 29949919		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	31649622, 31693862		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28807816, 31066320		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	30423172		★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	33758105	Associate	★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22081434		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	27974395, 31041622		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	26818518		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30624667		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	18027173, 29182404		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17047067, 18339874, 19523861, 19773438, 20127734, 20530556, 20940396, 22367541, 22546217, 22886792, 23940798, 24882582, 25906254, 26261538, 26323436, 27986349, 28615679, 29250185, 29371637, 30200497, 30402678, 31010254, 31212374, 31262501		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	29456672		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	32332823	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16652388, 17616684, 18519641, 18702307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17218776, 18519641, 18776922, 18790744, 19347904, 19725049, 19773438, 20019839, 20530556, 21036700, 21147910, 21373201, 21867506, 22280146, 22782340, 22815832, 23308052, 23515290, 23646189, 23798432, 23841076, 23940798, 25238935, 25252916, 25275598, 25650269, 25797255, 25917875, 26364608, 26375845, 26447757, 26499200, 26558456, 26577921, 27096957, 28186966, 28280729, 28507054, 28724614, 29316844, 29784665, 30153654, 30190183, 30382885, 30551391, 30973040, 30987073, 31135122, 31581661, 31599405, 31714902, 31885728, 31995655, 32039440, 32597485, 32873828, 32904490, 33152908, 33648424, 34309216, 34338146, 34417538, 35082928, 35086953, 35163369, 35320709, 35328346, 35655258, 35811549, 35834137, 36077039, 36625246, 37240163, 37460872, 37670888, 37889103, 37958994, 38048859, 40188042	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19773438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35082928	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	31067781		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	34992498, 36498953	Associate	★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33833411	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	26887912	Associate	★☆☆☆☆ Found in Text Mining only
PTEN Hamartoma Tumor Syndrome	PTEN Hamartoma Tumor Syndrome	BEFREE	24366516		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	28623647		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	21498912	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26017061, 27006450		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26426522, 30692212, 35134750, 39349929	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	29507104, 31468083		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19244201, 26382847, 27026415, 29518028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	25358403, 37344825, 39745695	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	28936961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal Neoplasms	Rectal Neoplasms	BEFREE	20622004		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	21886838, 22709692, 26255626, 28762135, 29371637, 31007884		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	CLINVAR_DG	24622468, 24631838		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14751088, 15956968, 16336094, 17935273, 18391590, 19470934, 19473483, 20830770, 21346035, 21644050, 22125056, 22229848, 23173671, 23209702, 23548153, 23571736, 23867512, 24091619, 24862756, 24935000, 25884680, 26114873, 27387559, 27526062, 27751729, 27863441, 28068944, 28107584, 28257457, 28276433, 28314474, 28549248, 28676933, 28952411, 28971328, 29115429, 29120911, 29323560, 29408183, 29451277, 29702156, 29719377, 29754934, 29851529, 29975249, 30158285, 30256787, 30308518, 30478013, 30513765, 30771617, 31031856, 31080770, 31155438, 31335987, 31465470		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17935273		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28585302, 31485275		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	24990893, 31534053		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31540400		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	33977284, 38593276	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	18027173		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	35259050	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	17604597, 26191215, 30291212, 31483776, 32323827, 33204686, 33896816	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20628002, 28748347, 29179444, 30254491, 31253398, 31483776, 31541850		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	30619462		★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	Pubtator	24913039, 26247533, 29461635	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	27878332, 29461635, 31088894		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	19648884, 21245298, 22135462, 25637161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	19648884, 21245298, 24133218, 29461635, 38225540	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28841779, 29165795, 30144422, 30584274, 31831256		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	33073679, 33479203	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	34440765	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	18157089, 22080063, 22648906, 26479291, 31542501, 34561551	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	19648884, 22135462, 23673410, 26479291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	21494688, 23922674, 24994750, 29036465, 33191406	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	21264294, 22067664, 23601105, 27208691	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	19648884, 23861137	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	23797736		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	39519004	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	28117656, 29148569, 37479784	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	29063964, 30061532, 30864513		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwannomatosis	Schwannomatosis	Pubtator	33025139	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	30075746	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	37844870	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28879901, 33833411, 34003514, 34417327, 35587487, 37574648, 37749503	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	28807816		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	35090526	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	17505052, 27904994, 28228357, 30050390, 31668132		★☆☆☆☆ Found in Text Mining only
Severe expressive language delay	Expressive language delay	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe receptive language delay	Delayed speech and language development	CLINVAR_DG	27159400		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	30518812	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30075746	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	30064826		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	28061443, 37863651	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	27837201, 28351834, 28532580		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	18292222, 29848679		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	32283126	Stimulate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	33450548	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29130366		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	31605778		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25884680, 28789352, 31454632		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	20683448, 25122428, 25884680, 27765907, 27863413, 28280736, 31781628, 39232038	Associate	★☆☆☆☆ Found in Text Mining only
SMITH-KINGSMORE SYNDROME	SMITH-KINGSMORE SYNDROME	UNIPROT_DG	25851998, 26542245, 27830187		★☆☆☆☆ Found in Text Mining only
SMITH-KINGSMORE SYNDROME	SMITH-KINGSMORE SYNDROME	ORPHANET_DG	25851998, 26542245		★☆☆☆☆ Found in Text Mining only
SMITH-KINGSMORE SYNDROME	SMITH-KINGSMORE SYNDROME	GENOMICS_ENGLAND_DG	27159400, 27830187, 28892148		★☆☆☆☆ Found in Text Mining only
SMITH-KINGSMORE SYNDROME	SMITH-KINGSMORE SYNDROME	BEFREE	27753196, 31053780		★☆☆☆☆ Found in Text Mining only
SMITH-KINGSMORE SYNDROME	SMITH-KINGSMORE SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	27466200		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	31831256		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	28848090, 32360069	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17332346, 17342092, 21040950, 22286903, 23728071, 25682238, 25862847, 28403126, 28574664, 28618939, 29463194, 29848679		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18953439		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23321166, 25109390, 28665915, 28867195, 28901498, 29463194, 29916308, 30528923, 31571914		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	17785546, 18538015, 18953439, 20513033, 23384718, 23847349, 24599934, 25193510, 25682238, 25834400, 26025965, 26895469, 27031247, 27095575, 27119232, 27369083, 28257034, 28574664, 28730764, 28961834, 29385406, 29695399, 30259648, 30308005, 30548484, 31422218, 31678634, 31756179, 32064753, 32826876, 33227411, 33482765, 33660438, 33811778, 34255745, 35142162, 35222682, 36124629, 36172670, 36804938, 37486536, 37608128, 40009568, 40066708	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	30423811		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18316583, 18953439, 20851953, 24103749, 25862847, 28823407, 29247557, 30230038, 31276435, 31657099		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28811537, 30339792		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	19817806, 28822838, 28902712		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	34636300	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26884719, 27492505, 31604805		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	31354493		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22334453, 23555892, 25701378, 26287940, 26317520, 26520441, 29436606, 29721055, 29976242, 29978580, 30147110, 30866995, 31115533		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	28401064	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18622747		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19223902, 20003385, 20929525, 22159814, 22337890, 22505595, 23555892, 24065659, 25035961, 25286393, 25767376, 25884175, 26168048, 26317520, 26458815, 26520441, 26733200, 27156070, 27572296, 27712585, 28005970, 28028034, 28423719, 28446188, 28460635, 28507275, 29332342, 29436606, 29700210, 29704890, 30206229, 30274346, 31115533, 31222863, 31339445, 31352788, 31974627, 31977138, 32020871, 32021099, 32096170, 32109290, 32460412, 32570120, 32769866, 33174370, 33314339, 33530803, 33627124, 33773069, 33896365, 34001131, 34091441, 34126195, 34455762, 34462561, 34753517, 34830011, 35151243, 35186488, 35443723, 35488236, 35507914, 35563178, 35645108, 36000536, 36095948, 36380570, 36732659, 36967718, 37341987, 37415737, 37537191, 37591783, 37863651, 38096029, 38159377	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	28224235, 29439772, 29547614, 30374901, 30760308, 30833486		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	23408345, 23938603		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31510897	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29676052, 31728694		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	21042217, 21224066, 26092412, 26173783, 28302901, 29277498, 30467464, 30509037, 30760308		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	29852732		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28532580, 30075746, 31831256		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	17353907, 29769264		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	29506143, 31430047		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30362086		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	28901376, 29315990		★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	20809949	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	31053780	Associate	★☆☆☆☆ Found in Text Mining only
Thrombotic Microangiopathies	Thrombotic Microangiopathies	BEFREE	30642877		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	25416470, 27876891, 28192408, 30652078		★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	24366516		★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	21543427, 23158190, 28453190	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21822208, 22549934, 24810336, 26617795, 26735176, 28634282, 29757257, 30575918, 33107190, 34104084, 35757470, 37704624	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	19706758, 21289267, 22549934, 23828865, 25029414, 25854169, 26463583, 29757257		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899, 26163618, 28489587, 35491899, 37397788	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	19706758, 21289267, 22549934, 25029414, 25854169, 26463583, 27870581, 29757257		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	20008023, 21289267, 22549934, 24712572, 26284586, 29757257, 29908094, 32846846, 34635506, 35795862, 36371529, 36988258, 37932340, 38275291	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	25749387	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	34680906	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	23107319		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	24625776		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21963359, 23071863, 24779793, 25129346, 26676751, 27165605, 27338042, 28582508, 29938395, 30237308, 30665374, 31388935, 31703728, 32027103, 32286420, 32311203, 32504034, 33311440, 33314633, 33352494, 33420229, 33495420, 33918859, 33990623, 34685748, 34935899, 35263216, 35431224, 35796646, 36863843, 37343696, 37506784, 37686205, 37711030, 37980588, 39819723	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23246963, 24708766, 25810016, 27893038, 28950000, 29162840, 29344641, 29417298, 29653745, 30248941, 30363988, 30773992, 31050709, 31388935, 31707383		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25209360	Inhibit	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12271141, 15624019, 15653324, 16849518, 17005863, 18067639, 18184959, 18193272, 18204792, 18292222, 18308511, 18350576, 18413730, 19286253, 19539245, 19602587, 19692352, 19817806, 20054236, 20087180, 20526286, 20668229, 21224066, 21806479, 21896734, 22125056, 22125080, 22520346, 23108404, 23136410, 23437388, 23485365, 23567018, 23644232, 23733802, 24044547, 24226526, 24558502, 24668795, 24806451, 25082895, 25591831, 25833943, 25844891, 26060906, 26092412, 26173783, 26220190, 26289591, 26296882, 26426570, 26564073, 26738854, 26758984, 26816112, 26849906, 27208208, 27216612, 27470532, 27493206, 27511181, 27543366, 27565896, 27566410, 27585680, 27625244, 27739368, 27797585, 27837201, 27878332, 28074282, 28121223, 28162859, 28183733, 28242756, 28288694, 28302901, 28351834, 28367235, 28386314, 28400571, 28406046, 28415776, 28600153, 28637240, 28638431, 28667702, 28694334, 28733877, 28777148, 28789352, 28808237, 28903387, 29018776, 29103422, 29146131, 29225800, 29277498, 29338461, 29395661, 29478616, 29569806, 29635516, 29766561, 29800026, 29941212, 30127391, 30144504, 30230171, 30237309, 30242175, 30290005, 30424962, 30467464, 30509037, 30581017, 30621732, 30700531, 30760308, 30762606, 30842342, 30864513, 30901081, 30976976, 31018109, 31080770, 31100427, 31125447, 31207499, 31217257, 31335226, 31437431, 31605778, 31668132, 31733185, 31791480, 31838997		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	12271141, 18226172, 18292222, 20070623, 20133820, 20526286, 21047224, 24159565, 24226526, 24512506, 24558502, 24913039, 25005575, 25268093, 26077033, 27216612, 27566410, 29610387, 29929111, 30509037, 30581017, 31591157, 31761686, 32807195, 34348978, 34417327, 35587487, 35997478, 36197220, 37294265, 39383590, 39762914, 40127731	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	15956968, 31039793	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	16914728, 17693255		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	24606538	Inhibit	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	34531523, 35806041	Associate	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	20145209, 26061549, 26683340, 28611587, 30141265, 30745581		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 2	Tuberous sclerosis complex	Pubtator	33180365	Inhibit	★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 2 (disorder)	Tuberous Sclerosis	BEFREE	19631745, 21813464, 23108404, 28777148, 29507104, 31437431		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	21635931, 23261523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19875696, 20354165, 20939013, 22895070, 23084634, 23551593, 24969552, 25266796, 26718217, 26800397, 26823699, 27143856, 28665070, 29657089, 31199921, 31789387, 31957155, 32325639, 32597485, 32608202, 33000269, 36232303, 37108067, 37932474, 39508245, 40586548, 40604062	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30176882	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	20395440, 24239466, 25596749, 28665070, 29657089, 30549029		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	29902261	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	18058806		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22735790, 24853425, 25135429, 25426553, 26367112, 26802646, 27220494, 27492148, 27581326, 27916907, 28446743, 28498475, 29466255, 29687840, 29874795, 30764901, 30808417, 30840260, 31210295, 31682716, 32833118, 33179755, 34029698, 35205332, 35392845, 35458629, 35616137, 36263185, 36499465, 36606668, 36614304, 38281034, 38561035, 39190388, 39557107	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Fibroids	Uterine Fibroids	BEFREE	19622772, 23284171		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	26795274, 27928645, 33579337, 34533562, 34931134, 35503453, 36690663, 37647867	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	31462126		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	31195431		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	25395850	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29369971, 31829455		★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	30542204, 32711543	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	19633069	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	34950150	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis of large artery	Vasculitis	BEFREE	29506143, 30061014		★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	30057669	Associate	★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	BEFREE	30626204		★☆☆☆☆ Found in Text Mining only
Venous Malformations Multiple Cutaneous and Mucosal	Venous malformation	Pubtator	23992520	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	35861070	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	29246578	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	21632450, 23477935		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	23084634	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	24308646		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	26637437		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	33564861	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	23922674, 32004974, 34723730, 37955537	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	39557107	Associate	★☆☆☆☆ Found in Text Mining only