Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2475
Gene name	Mechanistic target of rapamycin kinase
Gene symbol	MTOR
Synonyms (NCBI Gene)	FRAPFRAP1FRAP2RAFT1RAPT1SKS
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

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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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	21878637
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	21878637
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	21878637
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	21878637
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006627	mmu-miR-100-5p	ImmunohistochemistryMicroarrayqRT-PCRWestern blot	21339483
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	21878637
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	21878637
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006155	hsa-miR-520c-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006157	hsa-miR-373-3p	Luciferase reporter assayqRT-PCRWestern blot	21898400
MIRT006627	mmu-miR-100-5p	ImmunohistochemistryMicroarrayqRT-PCRWestern blot	21339483
MIRT006146	hsa-miR-99a-5p	FACSLuciferase reporter assayqRT-PCRWestern blot	22299047
MIRT006564	hsa-miR-99b-5p	FACSLuciferase reporter assayqRT-PCRWestern 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 assayqRT-PCRWestern blot	23292834
MIRT007365	hsa-miR-100-5p	Luciferase reporter assayqRT-PCRWestern blot	23292834
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	23292834
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern 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 assayqRT-PCRWestern blot	22751686
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayWestern blot	23762265
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	23173671
MIRT006564	hsa-miR-99b-5p	Luciferase reporter assayqRT-PCRWestern blot	24668416
MIRT006564	hsa-miR-99b-5p	Luciferase reporter assayqRT-PCRWestern blot	24668416
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	24668416
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayqRT-PCRWestern blot	24668416
MIRT006146	hsa-miR-99a-5p	MCF-7	24637915
MIRT006146	hsa-miR-99a-5p	ChIP-seqFlowImmunohistochemistryImmunoprecipitaionqRT-PCRWestern blot	24810364
MIRT054040	hsa-miR-101-3p	FlowLuciferase reporter assayqRT-PCRWestern blot	22989749
MIRT007365	hsa-miR-100-5p	qRT-PCRWestern blot	23778488
MIRT006146	hsa-miR-99a-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	24312487
MIRT026023	hsa-miR-199a-3p	ImmunofluorescenceMicroarrayQRTPCRWestern blot	24810336
MIRT006146	hsa-miR-99a-5p	ImmunoblotLuciferase reporter assayqRT-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 assayqRT-PCRWestern blot	23893385
MIRT007365	hsa-miR-100-5p	FACSLuciferase reporter assayqRT-PCRWestern blot	24030073
MIRT006146	hsa-miR-99a-5p	FACSLuciferase reporter assayqRT-PCRWestern blot	24030073
MIRT007365	hsa-miR-100-5p	Luciferase reporter assay	23270926
MIRT026023	hsa-miR-199a-3p	Luciferase reporter assayWetsern blotqRT-PCR	24378853
MIRT007365	hsa-miR-100-5p	Luciferase reporter assay	23270926
MIRT026023	hsa-miR-199a-3p	Luciferase reporter assayWetsern blotqRT-PCR	24378853
MIRT440200	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440200	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT006564	hsa-miR-99b-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26259252
MIRT006564	hsa-miR-99b-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	26259252
MIRT026023	hsa-miR-199a-3p	Luciferase reporter assayqRT-PCRWestern blot	26051997
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern blot	26687302
MIRT006872	hsa-miR-144-3p	ImmunofluorescenceWestern 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-PCRWestern blot	26458815
MIRT026023	hsa-miR-199a-3p	ImmunofluorescenceqRT-PCRWestern blotImmunohistochemistry analysis	25854175
MIRT026023	hsa-miR-199a-3p	ImmunofluorescenceqRT-PCRWestern blotImmunohistochemistry analysis	25854175
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayqRT-PCRWestern blot	27072960
MIRT007365	hsa-miR-100-5p	Western blot	26744318
MIRT006146	hsa-miR-99a-5p	FlowImmunohistochemistryqRT-PCRWestern 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-seqqRT-PCR	34209741
MIRT733614	hsa-miR-342-3p	Luciferase reporter assayqRT-PCRWestern blotting	34055578
MIRT734783	hsa-miR-3129-5p	Luciferase reporter assayWestern blottingqRT-PCR	33336524
MIRT734933	hsa-miR-19b-3p	Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)Immunofluorescence	33332749
MIRT006564	hsa-miR-99b-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	31819515
MIRT735922	hsa-miR-641	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCR	32423991
MIRT006564	hsa-miR-99b-5p	Luciferase reporter assayWestern blottingqRT-PCR	32608991
MIRT026023	hsa-miR-199a-3p	Western blottingqRT-PCR	31789347
MIRT054040	hsa-miR-101-3p	Western blottingImmunoprecipitaion (IP)RNA-seqImmunofluorescenceqRT-PCRFlow cytometry	32326380
MIRT026023	hsa-miR-199a-3p	Western blotting	31898515
MIRT755644	hsa-miR-7-5p	Luciferase reporter assayWestern blottingqRT-PCR	37745037
MIRT006872	hsa-miR-144-3p	Luciferase reporter assayWestern blottingqRT-PCRImmunoprecipitaion (IP)	38225540
MIRT006564	hsa-miR-99b-5p	Western blottingMicroarrayqRT-PCRImmunohistochemistry (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

225

Show/Hide all (225)

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

MIM	HGNC	e!Ensembl
601231	3942	ENSG00000198793

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

Interactions

View interactions

346

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs587777894	RCV006253980
Hemimegalencephaly	Pathogenic	rs1057519914	RCV000494705
Intellectual disability	Pathogenic	rs863225264	RCV001544505
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
Macrocephaly	Likely pathogenic; Pathogenic	rs1557739557	RCV000768372
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 View all (3 more)	RCV001376166 RCV001591643 RCV001775303 RCV001824269 RCV001824270 RCV002272139 RCV003444060 RCV000170355 RCV000201885 RCV000209915 RCV000209880 RCV003153177 RCV000234811 RCV004799686 RCV003992287 RCV000995810 RCV001253755 RCV003333085 RCV005623364 RCV003883163
MTOR-related disorder	Pathogenic	rs587777893	RCV005223131
MTOR-related megalencephaly and pigmentary mosaicism in skin	Pathogenic	rs587777893	RCV000708565
Neoplasm	Likely pathogenic	rs2100423871	RCV006274424
Overgrowth syndrome	Likely pathogenic	rs2100423871	RCV003458280
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
Rare genetic intellectual disability	Pathogenic	rs863225264	RCV001256976
Severe intellectual disability	Pathogenic	rs863225264	RCV001003568

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal facial shape	Uncertain significance	rs767448054	RCV001849471
Abnormality of the skeletal system	Uncertain significance	rs767448054	RCV001849471
Acute myeloid leukemia	Benign	rs1418000236	RCV005918723
Autism spectrum disorder	Conflicting classifications of pathogenicity	rs2523387278	RCV003126262
Autosomal dominant epilepsy	Uncertain significance	rs2521991279	RCV003156203
Cervical cancer	Likely benign; Benign	rs75596628, rs1418000236	RCV005919258 RCV005918725
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	rs537259064	RCV005626434
Familial cancer of breast	Benign; Likely benign	rs12122483, rs747347806	RCV005918013 RCV005912499
Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	rs1314609319	RCV005626406
Gastric cancer	Uncertain significance; Benign; Likely benign	rs768076455, rs55881943	RCV005928375 RCV005899546
Hepatocellular carcinoma	Benign	rs2275527	RCV005896384
Malignant lymphoma, large B-cell, diffuse	Benign	rs2275527	RCV005896385
Malignant tumor of esophagus	Benign; Likely benign	rs12122483, rs1418000236, rs144984370	RCV005918014 RCV005918724 RCV005899473
Neurodevelopmental disorder	Uncertain significance	rs1643023228	RCV002277644
Neurodevelopmental disorder, MTOR related	Likely benign; Conflicting classifications of pathogenicity	rs1274311146, rs374052581	RCV001535576 RCV003483775
Neuroendocrine pancreatic tumor	-	rs774204282	RCV004813282
Ovarian serous cystadenocarcinoma	Likely benign	rs1292945280	RCV005918588
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	rs778855567, rs141936187	RCV000986236 RCV000986237
Rhabdomyosarcoma	Uncertain significance	rs1296711816	RCV006254330
Sarcoma	Benign	rs1418000236	RCV005918726
See cases	Conflicting classifications of pathogenicity	rs189436499	RCV003232099
Seizure	Uncertain significance	rs141507044	RCV005239682

Show/Hide Text Mining Associations (637)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 methylcrotonyl CoA carboxylase 1 deficiency	Associate	24262658
AA amyloidosis	Associate	25992776
Abortion Spontaneous	Associate	33371356
Absent radii and thrombocytopenia	Associate	21304100
Acquired Immunodeficiency Syndrome	Associate	28192480
Acrodermatitis	Associate	24558502
ACTH Secreting Pituitary Adenoma	Associate	27615706
Acute Disease	Associate	37295770
Adenocarcinoma	Associate	18413730, 19090006, 22767218, 23544944, 24603303, 26261591, 27096957, 27814385, 28302097, 33587450, 36991000, 37894790, 39337548, 39739112
Adenocarcinoma	Stimulate	27775076, 28831205, 33865336
Adenocarcinoma Follicular	Associate	36521425
Adenocarcinoma of Lung	Associate	23443799, 26023239, 26639561, 26715839, 28939129, 29463039, 32023262, 32432746, 32769881, 33839363, 34362378, 35130633, 35325730, 35813221, 36919755, 37072703, 37742030, 37955668 View all (3 more)
Adenoma	Associate	30021100, 31411736
Adenomatous Polyposis Coli	Associate	25487926
Adrenal Gland Neoplasms	Associate	23626817
Adrenocortical Carcinoma	Associate	30838516, 31561992, 35279598, 36320101
Aicardi Syndrome	Associate	26011570, 37118353
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Associate	36302964
Albuminuria	Stimulate	36476132
Alcohol Related Disorders	Associate	38136956
Allergic Fungal Sinusitis	Associate	35747690
Alzheimer Disease	Associate	19210572, 22873724, 23585566, 24252508, 24735980, 25119265, 25791428, 25992776, 28922161, 29848382, 32233750, 33834692, 35178230, 40141059
Ameloblastoma	Associate	22977662, 32719259
Amyotrophic Lateral Sclerosis	Associate	36271102
Amyotrophic Lateral Sclerosis 8	Associate	36722478
Androgen Insensitivity Syndrome	Associate	28192480
Anemia Diamond Blackfan	Associate	29745857
Angina Stable	Associate	30220708
Angiofibroma	Associate	18547304, 36104799
Angiolipoma	Associate	24913039
Angiomyolipoma	Associate	16575396, 17521703, 23555865, 26077033, 29764404, 34059113
Anhedonia	Associate	31290289
Aniridia	Associate	35551459
Anodontia	Associate	35443723
Antiphospholipid Syndrome	Associate	25862984, 31053780
Aortic Aneurysm Thoracic	Associate	27394642, 36555139
Aphasia	Associate	33833411
Argininosuccinic Aciduria	Associate	31796844
Arteriovenous Malformations	Associate	35343049
Arthritis Gouty	Associate	36328206
Arthritis Rheumatoid	Associate	18821679, 29768212, 31028998, 32510258, 32867828, 34558072, 34911836, 35456453, 35835748
Ascites	Associate	19240722, 37115089
Asthenia	Associate	20630061
Asthma	Associate	29956778
Astrocytoma	Associate	18226172, 20133820, 21228927, 22627626, 23592488, 24913039, 25227171, 27106762, 27608415, 27625244, 30509037, 33448156, 38217295
Ataxia Telangiectasia	Associate	27203213, 27821800
Atherosclerosis	Associate	24713582, 29668625, 32377692, 39198757
Atrial Fibrillation	Associate	32940379
Atrophy	Associate	16916907
Attention Deficit and Disruptive Behavior Disorders	Associate	37149863
Autism Spectrum Disorder	Associate	26239490, 26542245, 26770665, 26887912, 29296277, 34065644, 35422816, 37894820
Autism Spectrum Disorder	Inhibit	37550884
Autistic Disorder	Associate	26770665, 29296277, 30705255, 31847491, 33564861
Autoimmune Diseases	Associate	34065644, 40141059
Autoimmune Diseases of the Nervous System	Associate	31053780
Autoimmune enteropathy	Associate	33822054
Autoimmune Lymphoproliferative Syndrome	Associate	27099149, 32206779, 35488725
Autonomic Nervous System Diseases	Associate	35778969
Barrett Esophagus	Associate	18413730
Basal Ganglia Diseases	Associate	36461712
Bicuspid Aortic Valve Disease	Associate	27394642, 37108591
Biliary Tract Neoplasms	Associate	28544747
Bipolar Disorder	Associate	25726893, 33765445
Birt Hogg Dube Syndrome	Associate	19850877, 26974543, 27871249, 40677928
Blindness	Associate	30220708
Blister	Associate	34924185
Bone Diseases	Associate	19648884, 25793716, 27765615, 30205378
Bone Resorption	Associate	27809291
Bowen's Disease	Associate	34874800
Brain Diseases	Associate	28969385, 31639285, 33833411
Brain Neoplasms	Associate	23180004, 24374956, 26410082, 26722465, 32843426, 38065968
Brain Neoplasms	Stimulate	29424922
Breast Neoplasms	Associate	16109716, 16288304, 16648488, 16859513, 17121430, 17429139, 17631500, 17726467, 18386830, 18652687, 19016759, 19925796, 20007781, 20459645, 21268715 View all (161 more)
Breast Neoplasms	Inhibit	40696656
Breast Neoplasms Male	Associate	27280636
Bronchiolitis Obliterans Syndrome	Associate	32382059
Burkitt Lymphoma	Associate	22241218, 28465297
Burns	Associate	36012680
Calcification of Joints and Arteries	Associate	32375544
Calcinosis	Associate	32375544
Calcinosis Cutis	Associate	24886512, 27435399, 37358877
Cap Myopathy	Associate	20530556, 25275598
Capsule Opacification	Associate	27911920, 29344639
Carcinogenesis	Associate	17996122, 18790744, 20530239, 20658316, 21159649, 21245298, 21387259, 22110663, 22146979, 22320958, 23209702, 23544944, 23626817, 23686804, 23940798 View all (41 more)
Carcinoid Tumor	Associate	20817788
Carcinoma	Associate	22648906, 24422672, 26479291, 26502919
Carcinoma Acinar Cell	Associate	21572398
Carcinoma Adenoid Cystic	Associate	32869263
Carcinoma Basal Cell	Associate	19055754, 25181405, 28573224, 31128046
Carcinoma Hepatocellular	Associate	17329400, 17996122, 20501828, 21878637, 22408571, 23785399, 24312415, 24516705, 24643969, 24800850, 24931142, 25063062, 25310259, 25424347, 25537506 View all (75 more)
Carcinoma Hepatocellular	Stimulate	29694502
Carcinoma Intraductal Noninfiltrating	Stimulate	16341149
Carcinoma Intraductal Noninfiltrating	Inhibit	26657114
Carcinoma Intraductal Noninfiltrating	Associate	26718977
Carcinoma Large Cell	Associate	20817788
Carcinoma Merkel Cell	Associate	24262658, 37311987, 38241371
Carcinoma Mucoepidermoid	Associate	29419396, 33479203
Carcinoma Neuroendocrine	Associate	34247193, 36653904
Carcinoma Non Small Cell Lung	Associate	15802268, 19472407, 19549709, 20008839, 20093977, 20421816, 20447721, 21387259, 21618507, 22355357, 22400071, 22673193, 22901187, 23154546, 23178462 View all (52 more)
Carcinoma Non Small Cell Lung	Stimulate	30796356
Carcinoma Ovarian Epithelial	Associate	19240722, 31234823, 33947352, 37115089, 37276925
Carcinoma Pancreatic Ductal	Associate	23437362, 25079376, 30261145, 34771150, 35699794, 38037549
Carcinoma Renal Cell	Associate	17440983, 18283322, 19061835, 19118035, 19473483, 20190810, 20462447, 20679884, 20830770, 21644050, 21834980, 21881486, 22542128, 22549432, 22938451 View all (82 more)
Carcinoma Small Cell	Associate	20817788, 26045808
Carcinoma Squamous Cell	Associate	19090006, 20360610, 21986939, 22389437, 25426553, 28730764, 29902261, 29980281, 30318447, 34874800, 36305267, 36357817, 36897548, 37248471
Cardiomyopathies	Associate	34607910
Cardiomyopathy Dilated	Associate	30705255
Cardiomyopathy Hypertrophic	Associate	25708222
Cardiomyopathy infantile histiocytoid	Associate	34531523, 34802045
Cardiovascular Diseases	Associate	24879147, 28765952
Cartilage Diseases	Associate	22883423, 32052902, 36035226
Castleman Disease	Associate	35655778
Cataract	Associate	36271348
Celiac Disease	Stimulate	32612145
Celiac Disease	Associate	34209150
Cell Transformation Neoplastic	Associate	21886838, 29587825, 32945237, 33450548, 38005222
Central Nervous System Vascular Malformations	Associate	35094709, 35343049, 35355055, 35997716, 36864519
Cerebral Infarction	Associate	31923616, 32960689
Cholangiocarcinoma	Associate	19147772, 21874010, 23832540, 24587347, 24867389, 25536104, 27206490, 28422725, 28694672, 31360102, 31638221, 32173382, 37219012, 37369494
Cholecystitis	Associate	23544944
Chondroblastoma	Associate	23760978
Chondrosarcoma	Associate	29576625
Chordoma	Associate	19401700, 19570961, 19648884, 30216418
Choriocarcinoma	Associate	32319603, 36464174
Chromosome 12 12p trisomy	Associate	37226709
Chromosome Disorders	Associate	26077033, 26887912
Chronic Disease	Associate	34220309
Chronic Kidney Disease Mineral and Bone Disorder	Associate	37340541
Chronic Motor Tics	Associate	34680906
Chronobiology Disorders	Associate	23028762, 39256343
Chylous Ascites	Inhibit	34348978
Clear cell metastatic renal cell carcinoma	Associate	25962440, 26831717, 26951309, 27279483, 30220708, 31389395, 35240013
Cleft Palate	Associate	35693826
Cognition Disorders	Associate	26239490, 26542245, 28050343, 33619909, 33765445
Colonic Diseases	Associate	26261591, 28179590
Colonic Neoplasms	Associate	20622004, 25388238, 25885658, 28811711, 29882195, 31266264, 34135408
Colorectal Neoplasms	Associate	18351386, 19351759, 20421047, 20622004, 21430067, 21946537, 22320958, 23743569, 23899692, 24724981, 24936148, 24969890, 24970012, 25637165, 25714871 View all (70 more)
Colorectal Neoplasms	Stimulate	25487926
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	35638907
Congenital Abnormalities	Associate	29296277
Congenital Hyperinsulinism	Associate	20830240, 29246172, 32157856
Congenital Lipomatous Overgrowth Vascular Malformations and Epidermal Nevi	Associate	28502725, 34074347
Congenital Microtia	Associate	35346221
Corneal Dystrophy Fleck	Associate	36342087, 37946310
Corneal Endothelial Cell Loss	Associate	34221236
Coronary Artery Disease	Associate	32557866, 35733129
Coronary Disease	Associate	32557866, 35619068
Coronavirus Infections	Associate	34952911
COVID 19	Associate	32691695, 32788292, 35060842, 35839768
Coxsackievirus Infections	Inhibit	25853521
Craniofacial Fibrous Dysplasia	Associate	36624141
Critical Illness	Associate	21483870
Cystic Fibrosis	Associate	19293384, 28794469, 31664087, 31992345
Cysts	Associate	20581392, 29739412
Death	Associate	19164214
Dehydration	Associate	20630061
Demyelinating Diseases	Associate	27750396
Depressive Disorder	Inhibit	25726893
Depressive Disorder	Associate	27490818, 30196309
Depressive Disorder Major	Associate	23261523, 27490818
Dermatitis Atopic	Associate	32922169
Dermatitis Atopic 1	Associate	30876376
Desmoplastic Small Round Cell Tumor	Associate	23922674
Developmental Disabilities	Associate	29296277, 34197453, 36095197
Developmental Disabilities	Inhibit	37550884
Diabetes Gestational	Associate	33620957, 33826986
Diabetes Mellitus	Associate	20739737, 23061800, 24797175, 33065976, 35788771, 35804402, 37340541, 39198757
Diabetes Mellitus	Stimulate	36476132
Diabetes Mellitus Type 1	Associate	32221364, 39464889
Diabetes Mellitus Type 2	Associate	25867326, 31993556, 32978410, 34502231, 39198757
Diabetic Nephropathies	Associate	24797175, 25867326, 31895808, 36476132
Diabetic Nephropathies	Inhibit	31281543
Diabetic Retinopathy	Associate	25997411, 38194422
Digestive System Neoplasms	Associate	29259266
Disease	Associate	23810382, 30216418, 32560162
Disease Progression	Associate	19570961
Disease Resistance	Associate	24457069
Down Syndrome	Associate	24735980, 31332166, 33633844, 35222360
Drug Related Side Effects and Adverse Reactions	Associate	17573715, 20447721, 22259051, 22338016, 22415553, 23974517, 24739393, 24800850, 25134527, 25482938, 26108998, 26405178, 27143856, 27735842, 27821800 View all (12 more)
Drug Related Side Effects and Adverse Reactions	Inhibit	30176882
Drug Resistant Epilepsy	Stimulate	27061881
Drug Resistant Epilepsy	Associate	32785072, 37574648
Dyskinesia Drug Induced	Associate	35332001, 39354865
Dyskinesias	Associate	34082790
Dyslipidemias	Associate	35899893
Dysplastic Nevus Syndrome	Associate	23554211, 33434304
Ectrodactyly Ectodermal Dysplasia And Cleft Lip Palate Syndrome 1	Associate	22920721
Ehlers Danlos Syndrome Type IV	Associate	37827202
Encephalitis	Associate	25005575
Endocrine System Diseases	Associate	24131622, 24467828, 27196739, 28577281, 31710162
Endometrial Hyperplasia	Associate	17466036
Endometrial Neoplasms	Associate	19107520, 19878980, 21228924, 21734474, 22252099, 22393970, 22920721, 23674493, 23851675, 24651628, 25154549, 25487944, 26135947, 26485755, 26794276 View all (21 more)
Endometrial Stromal Tumors	Associate	36731460
Endometriosis	Associate	30387804, 30566420, 31014943, 35173685, 35401535
Epidermolysis Bullosa Simplex	Associate	34536484, 34924185
Epilepsies Partial	Associate	30220708, 40674414
Epilepsy	Associate	25005575, 25599672, 27566410, 27750396, 33208499, 33619909, 33833411, 35355055, 37263295
Epilepsy	Stimulate	34417327
Epilepsy Temporal Lobe	Associate	29331082
Epstein Barr Virus Infections	Associate	24917448, 36075565
Erdheim Chester Disease	Associate	25150293, 26041743
Erythema Ab Igne	Associate	22977662
Esophageal Neoplasms	Associate	19164214, 22841170, 26357655, 28487599, 28631572, 30098109, 30368517, 32104700, 35315581, 35920446
Esophageal Squamous Cell Carcinoma	Associate	22841170, 23524405, 26357655, 26722465, 27749841, 28665915, 29463194, 29916308, 31558183, 33460563, 34190001, 34841952, 35662041, 35904643
Essential Tremor	Associate	30570876
Esthesioneuroblastoma Olfactory	Associate	28495808
FACES syndrome	Associate	24558502
Facial Hemiatrophy	Associate	36624141
Familial cylindromatosis	Associate	25181405
Familial cylindromatosis	Stimulate	26336083
Fanconi Anemia	Associate	33423298
Fatty Liver	Associate	26077338, 29615085
Fetal Alcohol Spectrum Disorders	Associate	26542245, 33833411
Fetal Diseases	Associate	23150676
Fetal Growth Retardation	Inhibit	17463046, 18987252
Fetal Growth Retardation	Associate	23165769, 23639576, 24886642, 26374858, 30124960, 30536700, 30670706, 33004923, 33371356, 33826986, 35837487, 39929058
Fibrocartilaginous embolism	Associate	33226960, 33846806
Fibrolamellar hepatocellular carcinoma	Associate	32400000
Fibrosis	Associate	18050204, 24516705, 25149531, 25613922, 27829579, 28685619, 30602778, 31485275, 31658846, 31710517
Fibrosis	Stimulate	25358403
Focal Cortical Dysplasia	Associate	25005575, 25599672, 27811355, 28260047, 28879901, 31353856, 32785072, 34003514, 34135202, 35355055, 35587487, 36461712, 36864519, 37574648, 37749503, 40674414 View all (1 more)
Focal cortical dysplasia of Taylor	Associate	20345941, 27566410, 34003514, 35706131, 36342087, 36864519, 37946310, 40674414
Folate Malabsorption Hereditary	Inhibit	28374905
Fragile X Syndrome	Associate	22268788
Frontotemporal Lobar Degeneration	Associate	40707828
Fuchs' Endothelial Dystrophy	Associate	25363469
Gallbladder Neoplasms	Associate	23544944, 24867389, 26287365, 32925281
Game Friedman Paradice syndrome	Associate	25599672
Ganglioglioma	Associate	19371356, 28879901, 35997478
Gastritis Atrophic	Associate	26317520
Gastro enteropancreatic neuroendocrine tumor	Associate	25110431, 27513674, 28423496, 34065268
Gastroesophageal Reflux	Stimulate	30057669
Gastrointestinal Neoplasms	Associate	32863943
Gastrointestinal Stromal Tumors	Associate	16916320, 24289602, 26617858, 33603171, 36921738
GATA2 Deficiency	Associate	25907832, 36498937
Gaucher Disease	Associate	31519738
Genetic Diseases Inborn	Associate	33619909
Glioblastoma	Associate	16199861, 16242075, 17921698, 19458076, 19587783, 21367753, 21460795, 22125077, 22156546, 24048798, 24498019, 24658109, 25070489, 25629604, 26940200 View all (32 more)
Glioma	Associate	18759130, 19176518, 19416948, 19661320, 19671762, 19705067, 19827268, 22753230, 24395351, 24470557, 24984002, 25854175, 26617839, 27893811, 28351321 View all (23 more)
Glomerulonephritis	Associate	31658846
Glomerulonephritis IGA	Inhibit	31485275
Glucocorticoid Receptor Deficiency	Associate	20200450
Glutamine deficiency congenital	Associate	26894601
Glycogen Storage Disease Type II	Associate	32051464
Glycogen Storage Disease Type IV	Associate	31941945
Glycosuria Renal	Associate	24226526, 38033740
Goiter Multinodular 2	Associate	30650598
Granulosa Cell Tumor	Associate	28104295
Growth Disorders	Associate	31514750, 35997716
HAIR AN syndrome	Associate	23543667
Hamartoma	Associate	18292222
Hamartoma Syndrome Multiple	Associate	21361912, 31350329, 35290761
Head and Neck Neoplasms	Associate	20513033, 22577058, 23408298, 26895469, 27374971, 28122379, 32628350, 33065976, 33482765, 34681918, 37486536, 39695576
Heart Diseases	Associate	37149863
Heart Neoplasms	Associate	24913039
Helicobacter Infections	Associate	26317520
Hemangioblastoma	Associate	31317677
Hemangioma	Associate	22900063, 23298485, 30584986
Hemangioma capillary infantile	Associate	39286286
Hemangiosarcoma	Associate	22648906
Hematologic Neoplasms	Associate	17075574, 19535348, 24586420, 33065976
Hemimegalencephaly	Associate	22729223, 23319189, 25599672, 26542245, 28864461, 31444548, 35441233, 35997478
Hemorrhage	Associate	33822054
Hemorrhagic Stroke	Associate	20630061
Hepatoblastoma	Associate	31541079
Hereditary Angioedema Type III	Associate	17616457
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16648488, 21574647, 23620408, 24811059, 26577839, 28582508, 29453318, 36539038, 36916425
Hippocampal Sclerosis	Associate	25005575
HIV Infections	Stimulate	12145207
HIV Infections	Associate	27978436, 28892135, 32554696
Holt Oram syndrome	Associate	32580247
HTLV I Infections	Associate	23278479
Hydranencephaly	Associate	25878179, 36461712
Hyper IgM Immunodeficiency Syndrome	Stimulate	18957614
Hyperaldosteronism	Associate	23626817
Hypercholesterolemia	Inhibit	35804402
Hyperglycemia	Associate	35804402
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	20739737
Hyperlipoproteinemia Type II	Associate	37946310
Hyperplasia	Associate	17466036, 20526286, 30591517, 38223571
Hypersensitivity Immediate	Stimulate	29701925
Hypertrophy	Associate	19351384, 21212465, 28550180, 35716147
Hypoglycemia	Associate	32157856
Hypopigmentation	Associate	33833411, 40127731
Hypoxia	Associate	12242281, 15802268, 18351386, 18566221, 19416948, 21048308, 21881486, 23681233, 25181405, 25887043, 26193287, 27211906, 31796646, 32427827, 33371356 View all (7 more)
Hypoxia	Stimulate	16648488, 24301659, 25988388, 26078356
Hypoxia	Inhibit	17379067, 18953439, 26097572, 27078027, 28115701, 31222863, 35626732, 35671789
Hypoxia Brain	Inhibit	17488873, 30921506, 34269814
Hypoxia Brain	Associate	19147540, 21048308, 27461218, 28115701, 31796646, 37735391, 39682777
Hypoxia Ischemia Brain	Associate	26239490
Idiopathic Pulmonary Fibrosis	Associate	24728102, 25358403, 29563341, 30602778, 31710517, 37099633, 39745695
Immunologic Deficiency Syndromes	Inhibit	26097572
Infections	Associate	27302320, 28461391, 30348826, 30554401
Inflammation	Associate	12807916, 18413730, 19250527, 20728939, 23646189, 24712572, 26053099, 26092770, 26384306, 27340936, 27601527, 28349073, 28420166, 28498330, 28809398 View all (27 more)
Inflammation	Inhibit	33998893
Inflammatory Bowel Diseases	Associate	24301659, 25569743
Inflammatory Breast Neoplasms	Associate	21153052, 23468988, 34531452
Inflammatory Breast Neoplasms	Stimulate	26774497
Influenza Human	Associate	32326380
Infratentorial Neoplasms	Associate	33902636
Insulin Resistance	Associate	15380067, 17986714, 17993646, 20809949, 22457523, 29207074, 34646087, 36325267, 37594055
Intellectual Disability	Associate	23348097, 26542245
Intellectual Disability	Inhibit	37550884
Intervertebral Disc Degeneration	Associate	29518770, 30716534, 33846806, 34554926
Intestinal Diseases	Associate	32235767
Intestinal Neoplasms	Associate	20190810
Intracranial Aneurysm	Associate	33574968
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	27302320
Iris Diseases	Associate	26542245
Ischemia	Associate	30554401
Juvenile polyposis syndrome	Associate	33822054
Keloid	Associate	31545402
Keratoacanthoma	Associate	26402814
Keratosis Actinic	Associate	34874800
Kidney Diseases	Associate	24226526, 31485275, 34607910
Kidney Failure Chronic	Associate	35908957
Kidney Neoplasms	Associate	20973793, 21886838, 24797175, 28713889, 29172931, 29424922, 30003754, 31717694, 32251007, 32668608, 34521993, 34538873, 34802045, 35240013, 35399832 View all (7 more)
Klippel Trenaunay Weber Syndrome	Associate	35343049
Laryngeal Neoplasms	Associate	27119232
Leigh syndrome French Canadian type	Associate	30995105
Leiomyoma	Associate	26820714
Leiomyosarcoma	Associate	21326806, 22080063, 23532091, 33788262
Lentigo	Stimulate	25917897
LEOPARD Syndrome	Associate	25708222
Leukemia	Associate	15922966, 16141350, 17179228, 17485551, 18048359, 19375649, 20616057, 21946537, 23573198, 24178622, 24244612, 24610825, 24714637, 25034786, 26542945 View all (7 more)
Leukemia Biphenotypic Acute	Stimulate	37217509
Leukemia Lymphocytic Chronic B Cell	Associate	20018914, 21307146, 27835591, 34423310, 36336127, 37439352, 37821382
Leukemia Monocytic Acute	Associate	34044827
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	15790787, 20704577, 21392556, 22511990, 24091670, 24682932, 28435223, 36674750
Leukemia Myeloid	Associate	26496029, 26891668, 34109436
Leukemia Myeloid Acute	Associate	15550488, 16304046, 16939811, 17259349, 17878402, 19535348, 20505189, 21067588, 21336564, 23077663, 23919981, 23955073, 24008673, 24404189, 24610825 View all (14 more)
Leukemia Prolymphocytic T Cell	Associate	29665227
Leukemia Promyelocytic Acute	Associate	26397153
Leukoencephalopathy Progressive Multifocal	Associate	34831441
Leukoplakia Oral	Associate	38223571
Leydig Cell Tumor	Associate	32180008
Lichen Planus Oral	Associate	30664152
Light Fixation Seizure Syndrome	Associate	32973329
Limbal Stem Cell Deficiency	Associate	35334220
Lip Hamartomatous	Associate	20526286
Lipoma	Associate	35290761
Liposarcoma	Associate	26518767, 30654529
Liver Diseases	Associate	25537506
Liver Failure	Associate	36457007, 37863651
Liver Neoplasms	Associate	28302097
Lown Ganong Levine Syndrome	Associate	25426553
Lung agenesis	Associate	29328793
Lung Diseases	Associate	19060845, 26468985, 29328793
Lung Diseases Interstitial	Associate	24571487, 35016744
Lung Neoplasms	Associate	16380505, 18566221, 18585380, 19090006, 19176399, 19654299, 20093977, 20447721, 21392382, 21618507, 22057915, 22673193, 23213057, 23226337, 23237220 View all (34 more)
Lung Neoplasms	Inhibit	24838270, 30105526
Lupus Erythematosus Systemic	Associate	19201859, 22549432, 23913957, 24683191, 25339666, 26526985, 28284231, 29161463, 31805010, 36197220
Lupus Nephritis	Associate	26526985, 37147021
Lymphangiectasia pulmonary congenital	Associate	30542204
Lymphangioleiomyomatosis	Associate	16575396, 19060845, 19717640, 20073603, 20630348, 23555865, 23983265, 24051985, 24159565, 28623674, 29739412, 30279475, 31878201, 32352655, 34378323, 34445268, 34936509, 35806041 View all (3 more)
Lymphangioleiomyomatosis	Inhibit	34348978
Lymphatic Metastasis	Associate	19090006, 20817788, 21387259, 25035961, 26097572, 26317520, 27533457, 28005970, 28032929, 28665915, 29463194, 35616137, 37115089
Lymphatic Metastasis	Stimulate	22320958, 32023262
Lymphedema	Associate	34170046
Lymphoma	Associate	17690253, 24586420, 25590803, 26917778, 34074205, 35184749
Lymphoma B Cell	Associate	29515122, 36691066, 37906510
Lymphoma B Cell Marginal Zone	Associate	32915799
Lymphoma Follicular	Associate	16912221, 17855629, 19321861, 27267853, 30720463, 37176048, 37899130
Lymphoma Large B Cell Diffuse	Associate	16856892, 22338016, 22899290, 23292937, 24135829, 25909227, 27147575, 28192480, 34913612, 36215154
Lymphoma Large Cell Anaplastic	Associate	16818631, 17690253, 19531656, 24509625
Lymphoma Mantle Cell	Associate	16645163, 17148679, 17606765, 18339899, 19708031, 20844237, 23079699, 25216518, 31498006, 36719376
Lymphoma Mantle Cell	Stimulate	28388555
Lymphoma Non Hodgkin	Associate	19705067, 23881924, 24113174, 25724300, 25839159, 28665070, 28759109, 34531523, 34538873, 34841595, 37978951, 38460672, 40584698
Lymphoma Primary Effusion	Associate	26575168
Lymphoma T Cell Cutaneous	Associate	38223508
Lymphoma T Cell Peripheral	Associate	30782609
Lymphoproliferative Disorders	Associate	17075574, 35488725, 36254040
Lysosomal Storage Diseases	Associate	31519738
Macular Degeneration	Associate	33172148, 34823219
Macular dystrophy corneal type 1	Associate	19371356, 33619909, 40055364
Malformations of Cortical Development	Associate	19371356, 23586324, 25878179, 33619909, 34048549, 35587487, 35997478, 36226386, 40055364, 40127731
Malformations of Cortical Development Group I	Associate	33393627, 35134750
Malnutrition	Associate	35458174
Mammary Neoplasms Animal	Associate	32348753
Medulloblastoma	Associate	17039417, 22313636, 24737380, 25193863, 27174915, 30244244
Medulloblastoma	Stimulate	22212915
Megalancephaly Polymicrogyria Polydactyly Hydrocephalus Syndrome	Associate	28502725
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	34521993
Megalencephaly	Associate	26153217, 26542245, 28086757, 29296277, 31232238, 31290289, 31639285, 33833411, 34170046, 35483878, 35551640, 40127731
Melanoma	Associate	18323781, 18679422, 19078992, 21169255, 22194965, 22475322, 22553342, 22589389, 24483290, 25749517, 27631768, 28302097, 29214525, 30042328, 33450548 View all (8 more)
Melanoma Cutaneous Malignant	Associate	33082316
Meningioma	Associate	22426462, 28610844, 28923059, 33622177
Mental Disorders	Associate	21949775, 34680906, 37479784, 40127731
Mesangial sclerosis diffuse	Associate	31119177
Mesothelioma	Associate	16123394, 18339627, 18511708, 21294125, 22065079, 24419422, 24762959, 31670317, 31709947
Mesothelioma Malignant	Associate	18511708, 20839315, 21774103, 24419422, 28003305, 28389374, 28464864, 28704762, 31752449, 32708306, 34987640
Metabolic Diseases	Associate	30917505, 30926763, 37488757, 40707828
Metabolic Syndrome	Inhibit	20809949
Metabolic Syndrome	Associate	21508135, 30917505, 33582655
Mevalonate Kinase Deficiency	Associate	38636615
Microscopic Polyangiitis	Associate	36496178
Mitochondrial Diseases	Associate	19201859, 23913957, 32630532, 34065350, 36293209, 36457007
Mitochondrial Diseases	Stimulate	30692212
Mohr Tranebjaerg syndrome	Stimulate	30280766
Mohr Tranebjaerg syndrome	Associate	31558183
Motor Skills Disorders	Associate	26542245
Mouth Diseases	Associate	23941441, 34255745
Mouth Neoplasms	Associate	23554211, 27031247, 28574664, 34082790
Multi centric Castleman's Disease	Associate	31408438, 32206779, 32376796
Multiple Myeloma	Associate	15319277, 19446321, 21541441, 22415553, 22556409, 23185517, 24586420, 24761838, 25034786, 25197055, 27144172, 27340936, 27765615, 28899456, 30396185 View all (12 more)
Muscular Atrophy	Associate	25460913, 35565825, 35605642
Muscular Atrophy Spinal	Associate	36078032
Myasthenia Gravis	Associate	37498332
Mycosis Fungoides	Associate	31028199
Myelodysplastic Syndromes	Associate	19535348
Myelodysplastic Syndromes	Inhibit	31756785
Myocardial Infarction	Associate	35378513
Myostatin related muscle hypertrophy	Associate	16916907, 27088469
Myotonic Dystrophy	Associate	30901379, 32683410
Nasal Polyps	Associate	19250527, 35747690
Nasopharyngeal Carcinoma	Associate	20338061, 23987636, 25100829, 25165983, 25872765, 26795575, 27876891, 28256603, 28581676, 28644386, 29991129, 30915749, 31334669, 31696477, 33215427 View all (8 more)
Nasopharyngeal Neoplasms	Associate	26499488, 31786875, 36644819
Necrosis	Associate	23913957
Neoplasm Metastasis	Associate	18283322, 18386830, 19090006, 20830770, 21430067, 23370361, 23626817, 23832540, 25063062, 25238935, 25797255, 26078356, 26259252, 27876891, 28446508 View all (35 more)
Neoplasm Metastasis	Stimulate	22320958, 35297992
Neoplasms	Associate	12242281, 12271141, 12842888, 14581487, 15056668, 15550488, 15797377, 15827164, 16199861, 16452206, 16818631, 17148679, 17310129, 17440983, 17968710 View all (534 more)
Neoplasms	Inhibit	15728574, 20169078, 24223226, 24668609, 25878335, 26892736, 27438149, 34535749, 35179782, 35977016
Neoplasms	Stimulate	21874010, 23785399, 24743574, 28077784, 31747912, 31885728, 33640883
Neoplasms Germ Cell and Embryonal	Associate	24896186
Neoplasms Glandular and Epithelial	Associate	32645560, 34898367, 36535331
Neoplasms Second Primary	Associate	22577058
Neoplastic Syndromes Hereditary	Associate	21361912, 26239490
Nerve Degeneration	Associate	22388478, 24735483, 33226960
Neural crest tumor	Associate	27438149
Neurilemmoma	Associate	19648884, 33025139
Neurobehavioral Manifestations	Associate	40707828
Neuroblastoma	Associate	18630505, 19528451, 21225506, 21290341, 25134527, 26561783, 26821351, 33390782, 34565342, 39218026
Neurodegenerative Diseases	Associate	23029019, 23586324, 27008180, 28833756, 31219803, 31519738, 33065976, 34831346, 37488757, 38041405, 40141059
Neuroectodermal Tumors Primitive	Associate	24839957, 36604142
Neuroendocrine Tumors	Associate	19917848, 20817788, 21252315, 23686804, 23980085, 24126619, 25076292, 26678657, 27513674, 27994516, 28042953, 28423496, 28453190, 29794066, 39447548
Neurofibrosarcoma	Associate	19246520, 19648884, 22259051, 24668609
Neuroinflammatory Diseases	Associate	37110714
Neurologic Manifestations	Associate	26542245, 32878890
Neuronal Ceroid Lipofuscinoses	Associate	35506243
Neurotoxicity Syndromes	Associate	27860187, 33922144
Nevus	Associate	24483290
Nevus Pigmented	Associate	27057633
Niemann Pick Disease Type C	Associate	22893706, 30915749
Night blindness congenital stationary	Associate	29449635
Non alcoholic Fatty Liver Disease	Associate	29615085, 30948912
Non Muscle Invasive Bladder Neoplasms	Associate	20530239
Non Muscle Invasive Bladder Neoplasms	Stimulate	26657114
Obesity	Associate	18460336, 23150676, 25108739, 26865587, 27314662, 28316325, 30862719, 33065976
Obesity	Inhibit	27245338
Obesity Maternal	Associate	26513002
Obstetric Labor Complications	Associate	33826986
Oculocerebrorenal Syndrome	Stimulate	24597478
Oculocerebrorenal Syndrome	Associate	34047002
Odontoma	Associate	32711543, 35094709
Optic Atrophy Hereditary Leber	Associate	24101601
Organizing Pneumonia	Associate	23708516
Osteoarthritis	Associate	22883423, 26247939, 26972586, 27669541, 29255496, 29344651, 31460867, 36253872, 37820587
Osteoarthritis Knee	Associate	32052902
Osteogenesis imperfecta type 1A	Associate	20093977
Osteoglophonic dwarfism	Inhibit	32519067
Osteolysis Essential	Associate	35668402
Osteoporosis	Associate	23708516, 32620113, 40165324
Osteosarcoma	Associate	24598996, 25512523, 26633383, 28791373, 29045512, 29510727, 29750154, 30092789, 30280766, 31340526, 31724536, 32054506, 32721630, 33146000, 33282634 View all (5 more)
Ovarian Neoplasms	Associate	15028555, 20081105, 20607860, 21744334, 22110186, 23464458, 23554977, 24590896, 25151963, 25509983, 26045471, 26319900, 26894601, 26937756, 27211906 View all (45 more)
Pain	Associate	33025139
Pancreatic Neoplasms	Associate	17968710, 19190347, 20630061, 20664591, 22949936, 23662044, 24590896, 24936056, 25079376, 25632222, 25632225, 25793983, 26046375, 26978006, 27349387 View all (24 more)
Pancreatitis	Associate	17310129, 27349387
Papilloma	Associate	37704624
Papilloma Inverted	Associate	29040365
Papillomavirus Infections	Associate	33587450
Paraganglioma	Associate	28122379, 31410193
Parathyroid Neoplasms	Associate	28352668, 34054720, 36611251
Parkinson Disease	Associate	26497684, 31180515, 36752535, 39218026, 39354865, 40141059
Parkinson Disease	Inhibit	31234232
Pelvic Organ Prolapse	Associate	34432732
Penile Neoplasms	Associate	29902261
Periodontitis	Associate	39904707
Peripheral Nervous System Diseases	Associate	19648884
Perisylvian syndrome	Stimulate	26520804
Perivascular Epithelioid Cell Neoplasms	Associate	17521703, 20048174, 20073603, 21874011, 22927055, 33180365, 37041531, 38219952
Personality Disorders	Associate	35240013
Peutz Jeghers Syndrome	Associate	28869103, 33822054
Phenylketonurias	Associate	25905460
Pheochromocytoma	Associate	20154675, 23626817, 28122379, 31410193
Philadelphia Chromosome	Associate	30642353, 34403880
Pigmentation Disorders	Associate	33833411
Pituitary Neoplasms	Associate	27615706, 31665029, 35247260
Placental Insufficiency	Associate	30670706
Plasmablastic Lymphoma	Associate	21631271, 28860565, 34714908
Poikiloderma with Neutropenia	Inhibit	32580297
Polycystic Kidney Autosomal Dominant	Associate	26077033, 35122417
Polycystic Kidney Autosomal Dominant	Stimulate	31186083
Polycystic Kidney Autosomal Recessive	Associate	24851866
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Associate	33765445
Polycystic Ovary Syndrome	Associate	32785222, 36523600
Polycythemia	Associate	29172931
Polycythemia Vera	Associate	24404189, 30570876, 35008095
Polyposis Syndrome Hereditary Mixed 1	Associate	18351386
Porokeratosis	Associate	33833411
Poroma	Associate	23056620
Porphyria Acute Intermittent	Associate	31018952
Pre Eclampsia	Associate	32572896, 33236147, 33826986, 36629523, 36702079
Precancerous Conditions	Associate	31067445, 31389121, 31750884, 33819917, 34874800
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	33531656, 35794338
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	21946537, 22685175, 23573198, 24244612, 25014496, 26917778, 27821800, 27997540, 30269036, 33531656, 34403880, 35788771
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	17363738, 19351820, 19436302, 24030073, 24331535, 24383842, 24975213, 26985829, 27776559, 30117681, 30269036, 30297804, 32149078, 32479694, 33615686, 37280363, 37373496 View all (2 more)
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	34670357
Primary Graft Dysfunction	Associate	33758105
Primary Immunodeficiency Diseases	Associate	32961022
Primary Myelofibrosis	Associate	21239780, 21725052, 22081434, 30570876
Primary Ovarian Insufficiency	Associate	35248053, 36229297, 36434569
Progeria	Associate	28033363, 29581305
Prostatic Hyperplasia	Associate	32332823
Prostatic Neoplasms	Associate	17218776, 18519641, 18776922, 18790744, 19347904, 19725049, 19773438, 20019839, 20530556, 21036700, 21147910, 21373201, 21867506, 22280146, 22782340 View all (64 more)
Prostatic Neoplasms	Stimulate	35082928
Prostatic Neoplasms Castration Resistant	Associate	24913494, 25252916, 32205016, 35834137
Prostatic stromal proliferation of uncertain malignant potential	Associate	31750884
Prostatitis	Associate	19773438, 27096957, 30190183, 32102520, 35693826
Protein Energy Malnutrition	Associate	27008180
Proteus Syndrome	Associate	28502725
Psoriasis	Associate	34992498, 36498953
Psychomotor Disorders	Associate	33833411
Psychotic Disorders	Associate	26887912
Pulmonary Arterial Hypertension	Associate	21498912
Pulmonary Disease Chronic Obstructive	Associate	26426522, 30692212, 35134750, 39349929
Pulmonary Embolism	Associate	19633069
Pulmonary Fibrosis	Associate	25358403, 37344825, 39745695
Pyruvate Carboxylase Deficiency Disease	Associate	23778488
Rectal Neoplasms	Associate	31997546, 34256782
Renal Insufficiency	Associate	20070623, 31514750
Renal Insufficiency Chronic	Associate	24226526
Reperfusion Injury	Associate	27376761, 33272162, 36840630
Respiratory Tract Infections	Associate	33977284, 38593276
Retinal Diseases	Associate	35259050
Retinal Dysplasia	Associate	25878179
Retinoblastoma	Associate	17604597, 26191215, 30291212, 31483776, 32323827, 33204686, 33896816
Retrograde Degeneration	Associate	32119650
Retroperitoneal Fibrosis	Associate	36720581
Rhabdomyoma	Associate	24913039, 26247533, 29461635
Rhabdomyosarcoma	Associate	19648884, 21245298, 24133218, 29461635, 38225540
Ring Chromosome 20 Syndrome	Associate	31196153
Salivary Gland Neoplasms	Associate	33073679, 33479203
Sarcoidosis	Associate	34440765
Sarcoma	Associate	18157089, 22080063, 22648906, 26479291, 31542501, 34561551
Sarcoma Ewing	Associate	21494688, 23922674, 24994750, 29036465, 33191406
Sarcoma Kaposi	Associate	21264294, 22067664, 23601105, 27208691
Sarcoma Synovial	Associate	19648884, 23861137
Sarcopenia	Associate	39519004
Schizophrenia	Associate	28117656, 29148569, 37479784
Schwannomatosis	Associate	33025139
Scleroderma Systemic	Associate	30075746
Sclerosis	Associate	37844870
Segmentation syndrome 1	Associate	37471470
Seizures	Associate	28879901, 33833411, 34003514, 34417327, 35587487, 37574648, 37749503
Sepsis	Associate	35090526
Sexual Dysfunction Physiological	Associate	25426553
Sezary Syndrome	Associate	30518812
Shwachman Diamond Syndrome	Associate	27146429
Shwachman Diamond Syndrome	Stimulate	40021961
Simpson Golabi Behmel syndrome	Associate	24782230, 25915946, 28502725, 28525374, 29549527, 31639285, 32500425, 34170046, 34980271
Sjogren's Syndrome	Associate	30075746
Skin Diseases	Associate	28061443, 37863651
Skin Neoplasms	Stimulate	32283126
Skin Neoplasms	Associate	33450548
Skull Base Neoplasms	Associate	28482067
Sleep Wake Disorders	Associate	25271084
Small Cell Lung Carcinoma	Associate	20683448, 25122428, 25884680, 27765907, 27863413, 28280736, 31781628, 39232038
Smoke Inhalation Injury	Associate	28816646, 36012680
Smooth Muscle Tumor	Associate	26045786
Soft Tissue Injuries	Associate	21837670
Soft Tissue Neoplasms	Associate	19648884
Solitary Fibrous Tumors	Associate	24353015
Spinal Curvatures	Associate	23401653
Spinal Dysraphism	Associate	35294039
Spondylitis Ankylosing	Associate	28848090, 32360069
Squamous Cell Carcinoma of Head and Neck	Associate	17785546, 18538015, 18953439, 20513033, 23384718, 23847349, 24599934, 25193510, 25682238, 25834400, 26025965, 26895469, 27031247, 27095575, 27119232 View all (29 more)
Starvation	Associate	25879517
Status Epilepticus	Associate	34636300
Stomach Diseases	Associate	28401064
Stomach Neoplasms	Associate	19223902, 20003385, 20929525, 22159814, 22337890, 22505595, 23555892, 24065659, 25035961, 25286393, 25767376, 25884175, 26168048, 26317520, 26458815 View all (62 more)
Stroke	Associate	31510897
Sturge Weber Syndrome	Associate	33316689
Sudden Unexpected Death in Epilepsy	Associate	35716147
Syndrome	Associate	31232238
Systemic Inflammatory Response Syndrome	Associate	24984264
Tang Hsi Ryu syndrome	Associate	25847489
Tarlov Cysts	Associate	35449152
Tauopathies	Associate	23319189
Tertiary Lymphoid Structures	Associate	25286393
Thrombosis	Inhibit	20809949
Thrombosis	Associate	31053780
Thymoma	Associate	26766736, 27844328, 30897085, 32388277, 37498332
Thyroid cancer medullary	Associate	21543427, 23158190, 28453190
Thyroid Cancer Papillary	Associate	21822208, 22549934, 24810336, 26617795, 26735176, 28634282, 29757257, 30575918, 33107190, 34104084, 35757470, 37704624
Thyroid Carcinoma Anaplastic	Associate	25576899, 26163618, 28489587, 35491899, 37397788
Thyroid Neoplasms	Associate	20008023, 21289267, 22549934, 24712572, 26284586, 29757257, 29908094, 32846846, 34635506, 35795862, 36371529, 36988258, 37932340, 38275291
Tic Disorders	Associate	34680906
Tongue Neoplasms	Associate	25749387
Tourette Syndrome	Associate	34680906
Tricuspid Valve Stenosis	Associate	37108591
Triple Negative Breast Neoplasms	Associate	21963359, 23071863, 24779793, 25129346, 26676751, 27165605, 27338042, 28582508, 29938395, 30237308, 30665374, 31388935, 31703728, 32027103, 32286420 View all (21 more)
Triple Negative Breast Neoplasms	Inhibit	25209360
Tuberculosis	Associate	27302320
Tuberculosis Multidrug Resistant	Associate	25310259, 26098947
Tuberculosis Pulmonary	Associate	37493735
Tuberous Sclerosis	Associate	12271141, 18226172, 18292222, 20070623, 20133820, 20526286, 21047224, 24159565, 24226526, 24512506, 24558502, 24913039, 25005575, 25268093, 26077033 View all (18 more)
Tuberous Sclerosis	Stimulate	15956968, 31039793
Tuberous Sclerosis	Inhibit	24606538
Tuberous Sclerosis 1	Associate	34531523, 35806041
Tuberous Sclerosis 2	Inhibit	33180365
Typical Teratoid Rhabdoid Tumor	Associate	20925002
Uniparental Disomy	Associate	28864461
Urethral Neoplasms	Associate	22110663, 29657089, 32767682
Urinary Bladder Neoplasms	Associate	19875696, 20354165, 20939013, 22895070, 23084634, 23551593, 24969552, 25266796, 26718217, 26800397, 26823699, 27143856, 28665070, 29657089, 31199921 View all (12 more)
Urinary Bladder Neoplasms	Stimulate	30176882
Uterine Cervical Dysplasia	Associate	29902261
Uterine Cervical Neoplasms	Associate	22735790, 24853425, 25135429, 25426553, 26367112, 26802646, 27220494, 27492148, 27581326, 27916907, 28446743, 28498475, 29466255, 29687840, 29874795 View all (20 more)
Uveal melanoma	Associate	26795274, 27928645, 33579337, 34533562, 34931134, 35503453, 36690663, 37647867
Vaginosis Bacterial	Associate	37149863
Varicose Ulcer	Associate	32867785
Vascular Diseases	Associate	25395850
Vascular Malformations	Associate	30542204, 32711543
Vascular Remodeling	Associate	19633069
Vasculitis	Associate	34950150
Venous Insufficiency	Associate	30057669
Venous Malformations Multiple Cutaneous and Mucosal	Associate	23992520
Venous Thromboembolism	Associate	35861070
Vitreoretinopathy Proliferative	Associate	29246578
Waldenstrom Macroglobulinemia	Associate	23084634
Weight Loss	Associate	30289975
Williams Syndrome	Associate	33564861
Wilms Tumor	Associate	23922674, 32004974, 34723730, 37955537
Wounds and Injuries	Associate	36012680
Wrist Fractures	Associate	28892148, 31053780, 34197453, 38582735, 40127731
X Linked Combined Immunodeficiency Diseases	Stimulate	35941390
Xanthomatosis Cerebrotendinous	Associate	39557107
Zika Virus Infection	Associate	32878890

MTOR (mechanistic target of rapamycin kinase)