NCOR1 (nuclear receptor corepressor 1)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 9611
• Gene name: Nuclear receptor corepressor 1
• Gene symbol: NCOR1
• Synonyms (NCBI Gene): N-CoR, N-CoR1, PPP1R109, TRAC1, hN-CoR
• Chromosome: 17
• Chromosome location: 17p12-p11.2
• Summary: This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which al

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs751569508	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA Show/Hide all (282)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052038	hsa-let-7b-5p	CLASH	23622248
MIRT044744	hsa-miR-320a	CLASH	23622248
MIRT041973	hsa-miR-484	CLASH	23622248
MIRT040375	hsa-miR-615-3p	CLASH	23622248
MIRT036031	hsa-miR-1301-3p	CLASH	23622248
MIRT1177419	hsa-miR-1253	CLIP-seq
MIRT1177420	hsa-miR-129-5p	CLIP-seq
MIRT1177421	hsa-miR-2053	CLIP-seq
MIRT1177422	hsa-miR-214	CLIP-seq
MIRT1177423	hsa-miR-2682	CLIP-seq
MIRT1177424	hsa-miR-3123	CLIP-seq
MIRT1177425	hsa-miR-3619-5p	CLIP-seq
MIRT1177426	hsa-miR-3714	CLIP-seq
MIRT1177427	hsa-miR-3925-5p	CLIP-seq
MIRT1177428	hsa-miR-4291	CLIP-seq
MIRT1177429	hsa-miR-4328	CLIP-seq
MIRT1177430	hsa-miR-4433	CLIP-seq
MIRT1177431	hsa-miR-449c	CLIP-seq
MIRT1177432	hsa-miR-548an	CLIP-seq
MIRT1177433	hsa-miR-761	CLIP-seq
MIRT1177434	hsa-miR-922	CLIP-seq
MIRT1177435	hsa-let-7a	CLIP-seq
MIRT1177436	hsa-let-7b	CLIP-seq
MIRT1177437	hsa-let-7c	CLIP-seq
MIRT1177438	hsa-let-7d	CLIP-seq
MIRT1177439	hsa-let-7e	CLIP-seq
MIRT1177440	hsa-let-7f	CLIP-seq
MIRT1177441	hsa-let-7g	CLIP-seq
MIRT1177442	hsa-let-7i	CLIP-seq
MIRT1177443	hsa-miR-106a	CLIP-seq
MIRT1177444	hsa-miR-106b	CLIP-seq
MIRT1177445	hsa-miR-1262	CLIP-seq
MIRT1177446	hsa-miR-1266	CLIP-seq
MIRT1177447	hsa-miR-1293	CLIP-seq
MIRT1177448	hsa-miR-1294	CLIP-seq
MIRT1177420	hsa-miR-129-5p	CLIP-seq
MIRT1177449	hsa-miR-1303	CLIP-seq
MIRT1177450	hsa-miR-132	CLIP-seq
MIRT1177451	hsa-miR-148a	CLIP-seq
MIRT1177452	hsa-miR-148b	CLIP-seq
MIRT1177453	hsa-miR-152	CLIP-seq
MIRT1177454	hsa-miR-1587	CLIP-seq
MIRT1177455	hsa-miR-17	CLIP-seq
MIRT1177456	hsa-miR-182	CLIP-seq
MIRT1177457	hsa-miR-194	CLIP-seq
MIRT1177458	hsa-miR-199a-5p	CLIP-seq
MIRT1177459	hsa-miR-199b-5p	CLIP-seq
MIRT1177460	hsa-miR-202	CLIP-seq
MIRT1177461	hsa-miR-20a	CLIP-seq
MIRT1177462	hsa-miR-20b	CLIP-seq
MIRT1177463	hsa-miR-210	CLIP-seq
MIRT1177464	hsa-miR-2110	CLIP-seq
MIRT1177465	hsa-miR-212	CLIP-seq
MIRT1177466	hsa-miR-216a	CLIP-seq
MIRT1177467	hsa-miR-216b	CLIP-seq
MIRT1177468	hsa-miR-219-2-3p	CLIP-seq
MIRT1177469	hsa-miR-2277-3p	CLIP-seq
MIRT1177470	hsa-miR-2467-3p	CLIP-seq
MIRT1177423	hsa-miR-2682	CLIP-seq
MIRT1177471	hsa-miR-296-3p	CLIP-seq
MIRT1177472	hsa-miR-2964a-3p	CLIP-seq
MIRT1177473	hsa-miR-302a	CLIP-seq
MIRT1177474	hsa-miR-302b	CLIP-seq
MIRT1177475	hsa-miR-302c	CLIP-seq
MIRT1177476	hsa-miR-302d	CLIP-seq
MIRT1177477	hsa-miR-302e	CLIP-seq
MIRT1177478	hsa-miR-3074-3p	CLIP-seq
MIRT1177479	hsa-miR-3120-3p	CLIP-seq
MIRT1177480	hsa-miR-3125	CLIP-seq
MIRT1177481	hsa-miR-3144-5p	CLIP-seq
MIRT1177482	hsa-miR-3147	CLIP-seq
MIRT1177483	hsa-miR-3150a-3p	CLIP-seq
MIRT1177484	hsa-miR-3154	CLIP-seq
MIRT1177485	hsa-miR-3190	CLIP-seq
MIRT1177486	hsa-miR-3191	CLIP-seq
MIRT1177487	hsa-miR-320b	CLIP-seq
MIRT1177488	hsa-miR-320c	CLIP-seq
MIRT1177489	hsa-miR-320d	CLIP-seq
MIRT1177490	hsa-miR-338-5p	CLIP-seq
MIRT1177491	hsa-miR-3607-3p	CLIP-seq
MIRT1177492	hsa-miR-3609	CLIP-seq
MIRT1177493	hsa-miR-361-5p	CLIP-seq
MIRT1177494	hsa-miR-3649	CLIP-seq
MIRT1177495	hsa-miR-365	CLIP-seq
MIRT1177496	hsa-miR-3681	CLIP-seq
MIRT1177497	hsa-miR-3686	CLIP-seq
MIRT1177426	hsa-miR-3714	CLIP-seq
MIRT1177498	hsa-miR-372	CLIP-seq
MIRT1177499	hsa-miR-373	CLIP-seq
MIRT1177500	hsa-miR-376a	CLIP-seq
MIRT1177501	hsa-miR-376b	CLIP-seq
MIRT1177502	hsa-miR-378g	CLIP-seq
MIRT1177503	hsa-miR-380	CLIP-seq
MIRT1177504	hsa-miR-3916	CLIP-seq
MIRT1177505	hsa-miR-3924	CLIP-seq
MIRT1177506	hsa-miR-3974	CLIP-seq
MIRT1177507	hsa-miR-3978	CLIP-seq
MIRT1177508	hsa-miR-4257	CLIP-seq
MIRT1177509	hsa-miR-4261	CLIP-seq
MIRT1177510	hsa-miR-4266	CLIP-seq
MIRT1177511	hsa-miR-4276	CLIP-seq
MIRT1177512	hsa-miR-4302	CLIP-seq
MIRT1177429	hsa-miR-4328	CLIP-seq
MIRT1177513	hsa-miR-4425	CLIP-seq
MIRT1177514	hsa-miR-4429	CLIP-seq
MIRT1177430	hsa-miR-4433	CLIP-seq
MIRT1177515	hsa-miR-4458	CLIP-seq
MIRT1177516	hsa-miR-4483	CLIP-seq
MIRT1177517	hsa-miR-4492	CLIP-seq
MIRT1177518	hsa-miR-4495	CLIP-seq
MIRT1177519	hsa-miR-4496	CLIP-seq
MIRT1177520	hsa-miR-4498	CLIP-seq
MIRT1177431	hsa-miR-449c	CLIP-seq
MIRT1177521	hsa-miR-4500	CLIP-seq
MIRT1177522	hsa-miR-4509	CLIP-seq
MIRT1177523	hsa-miR-4518	CLIP-seq
MIRT1177524	hsa-miR-4652-5p	CLIP-seq
MIRT1177525	hsa-miR-4656	CLIP-seq
MIRT1177526	hsa-miR-4675	CLIP-seq
MIRT1177527	hsa-miR-4680-3p	CLIP-seq
MIRT1177528	hsa-miR-4695-5p	CLIP-seq
MIRT1177529	hsa-miR-4699-3p	CLIP-seq
MIRT1177530	hsa-miR-4700-3p	CLIP-seq
MIRT1177531	hsa-miR-4701-3p	CLIP-seq
MIRT1177532	hsa-miR-4735-5p	CLIP-seq
MIRT1177533	hsa-miR-4741	CLIP-seq
MIRT1177534	hsa-miR-4744	CLIP-seq
MIRT1177535	hsa-miR-4753-3p	CLIP-seq
MIRT1177536	hsa-miR-4775	CLIP-seq
MIRT1177537	hsa-miR-4779	CLIP-seq
MIRT1177538	hsa-miR-4781-3p	CLIP-seq
MIRT1177539	hsa-miR-4789-5p	CLIP-seq
MIRT1177540	hsa-miR-4795-3p	CLIP-seq
MIRT1177541	hsa-miR-4795-5p	CLIP-seq
MIRT1177542	hsa-miR-4796-3p	CLIP-seq
MIRT1177543	hsa-miR-4803	CLIP-seq
MIRT1177544	hsa-miR-499-3p	CLIP-seq
MIRT1177545	hsa-miR-499a-3p	CLIP-seq
MIRT1177546	hsa-miR-519d	CLIP-seq
MIRT1177547	hsa-miR-520a-3p	CLIP-seq
MIRT1177548	hsa-miR-520b	CLIP-seq
MIRT1177549	hsa-miR-520c-3p	CLIP-seq
MIRT1177550	hsa-miR-520d-3p	CLIP-seq
MIRT1177551	hsa-miR-520e	CLIP-seq
MIRT1177552	hsa-miR-542-3p	CLIP-seq
MIRT1177553	hsa-miR-548ah	CLIP-seq
MIRT1177432	hsa-miR-548an	CLIP-seq
MIRT1177554	hsa-miR-548k	CLIP-seq
MIRT1177555	hsa-miR-548n	CLIP-seq
MIRT1177556	hsa-miR-548t	CLIP-seq
MIRT1177557	hsa-miR-561	CLIP-seq
MIRT1177558	hsa-miR-577	CLIP-seq
MIRT1177559	hsa-miR-582-3p	CLIP-seq
MIRT1177560	hsa-miR-584	CLIP-seq
MIRT1177561	hsa-miR-590-3p	CLIP-seq
MIRT1177562	hsa-miR-635	CLIP-seq
MIRT1177563	hsa-miR-648	CLIP-seq
MIRT1177564	hsa-miR-664	CLIP-seq
MIRT1177565	hsa-miR-7	CLIP-seq
MIRT1177566	hsa-miR-762	CLIP-seq
MIRT1177567	hsa-miR-875-3p	CLIP-seq
MIRT1177568	hsa-miR-877	CLIP-seq
MIRT1177569	hsa-miR-93	CLIP-seq
MIRT1177570	hsa-miR-98	CLIP-seq
MIRT1177479	hsa-miR-3120-3p	CLIP-seq
MIRT1177539	hsa-miR-4789-5p	CLIP-seq
MIRT2051346	hsa-miR-203	CLIP-seq
MIRT1177479	hsa-miR-3120-3p	CLIP-seq
MIRT1177487	hsa-miR-320b	CLIP-seq
MIRT1177488	hsa-miR-320c	CLIP-seq
MIRT1177489	hsa-miR-320d	CLIP-seq
MIRT2051347	hsa-miR-3664-5p	CLIP-seq
MIRT2051348	hsa-miR-3672	CLIP-seq
MIRT1177506	hsa-miR-3974	CLIP-seq
MIRT1177507	hsa-miR-3978	CLIP-seq
MIRT1177514	hsa-miR-4429	CLIP-seq
MIRT2051349	hsa-miR-4457	CLIP-seq
MIRT2051350	hsa-miR-4522	CLIP-seq
MIRT2051351	hsa-miR-4677-3p	CLIP-seq
MIRT2051352	hsa-miR-4679	CLIP-seq
MIRT1177527	hsa-miR-4680-3p	CLIP-seq
MIRT1177529	hsa-miR-4699-3p	CLIP-seq
MIRT1177539	hsa-miR-4789-5p	CLIP-seq
MIRT1177541	hsa-miR-4795-5p	CLIP-seq
MIRT1177544	hsa-miR-499-3p	CLIP-seq
MIRT1177545	hsa-miR-499a-3p	CLIP-seq
MIRT2051353	hsa-miR-507	CLIP-seq
MIRT2051354	hsa-miR-513b	CLIP-seq
MIRT2051355	hsa-miR-548ae	CLIP-seq
MIRT2051356	hsa-miR-548aj	CLIP-seq
MIRT2051357	hsa-miR-548am	CLIP-seq
MIRT2051358	hsa-miR-548c-3p	CLIP-seq
MIRT1177554	hsa-miR-548k	CLIP-seq
MIRT2051359	hsa-miR-548x	CLIP-seq
MIRT2051360	hsa-miR-557	CLIP-seq
MIRT1177564	hsa-miR-664	CLIP-seq
MIRT1177567	hsa-miR-875-3p	CLIP-seq
MIRT1177450	hsa-miR-132	CLIP-seq
MIRT1177465	hsa-miR-212	CLIP-seq
MIRT2280468	hsa-miR-1182	CLIP-seq
MIRT2280469	hsa-miR-1273d	CLIP-seq
MIRT2280470	hsa-miR-1298	CLIP-seq
MIRT1177450	hsa-miR-132	CLIP-seq
MIRT1177451	hsa-miR-148a	CLIP-seq
MIRT1177452	hsa-miR-148b	CLIP-seq
MIRT1177453	hsa-miR-152	CLIP-seq
MIRT2280471	hsa-miR-193a-5p	CLIP-seq
MIRT1177457	hsa-miR-194	CLIP-seq
MIRT1177458	hsa-miR-199a-5p	CLIP-seq
MIRT1177459	hsa-miR-199b-5p	CLIP-seq
MIRT1177463	hsa-miR-210	CLIP-seq
MIRT1177465	hsa-miR-212	CLIP-seq
MIRT1177469	hsa-miR-2277-3p	CLIP-seq
MIRT1177478	hsa-miR-3074-3p	CLIP-seq
MIRT1177479	hsa-miR-3120-3p	CLIP-seq
MIRT1177490	hsa-miR-338-5p	CLIP-seq
MIRT1177493	hsa-miR-361-5p	CLIP-seq
MIRT1177495	hsa-miR-365	CLIP-seq
MIRT1177503	hsa-miR-380	CLIP-seq
MIRT1177505	hsa-miR-3924	CLIP-seq
MIRT1177506	hsa-miR-3974	CLIP-seq
MIRT1177510	hsa-miR-4266	CLIP-seq
MIRT2280472	hsa-miR-4272	CLIP-seq
MIRT1177511	hsa-miR-4276	CLIP-seq
MIRT1177512	hsa-miR-4302	CLIP-seq
MIRT1177518	hsa-miR-4495	CLIP-seq
MIRT1177528	hsa-miR-4695-5p	CLIP-seq
MIRT1177529	hsa-miR-4699-3p	CLIP-seq
MIRT1177532	hsa-miR-4735-5p	CLIP-seq
MIRT2280473	hsa-miR-4742-3p	CLIP-seq
MIRT1177537	hsa-miR-4779	CLIP-seq
MIRT1177539	hsa-miR-4789-5p	CLIP-seq
MIRT1177543	hsa-miR-4803	CLIP-seq
MIRT1177552	hsa-miR-542-3p	CLIP-seq
MIRT2280474	hsa-miR-548a-3p	CLIP-seq
MIRT2051358	hsa-miR-548c-3p	CLIP-seq
MIRT2280475	hsa-miR-548e	CLIP-seq
MIRT2280476	hsa-miR-548f	CLIP-seq
MIRT1177554	hsa-miR-548k	CLIP-seq
MIRT1177555	hsa-miR-548n	CLIP-seq
MIRT1177556	hsa-miR-548t	CLIP-seq
MIRT1177558	hsa-miR-577	CLIP-seq
MIRT1177560	hsa-miR-584	CLIP-seq
MIRT2280477	hsa-miR-630	CLIP-seq
MIRT1177563	hsa-miR-648	CLIP-seq
MIRT1177564	hsa-miR-664	CLIP-seq
MIRT2280468	hsa-miR-1182	CLIP-seq
MIRT2578895	hsa-miR-149	CLIP-seq
MIRT1177454	hsa-miR-1587	CLIP-seq
MIRT2578896	hsa-miR-1976	CLIP-seq
MIRT2578897	hsa-miR-3140-5p	CLIP-seq
MIRT2578898	hsa-miR-3152-3p	CLIP-seq
MIRT2578899	hsa-miR-3646	CLIP-seq
MIRT2578900	hsa-miR-4265	CLIP-seq
MIRT2578901	hsa-miR-4296	CLIP-seq
MIRT2578902	hsa-miR-4322	CLIP-seq
MIRT2578903	hsa-miR-4417	CLIP-seq
MIRT2051349	hsa-miR-4457	CLIP-seq
MIRT1177517	hsa-miR-4492	CLIP-seq
MIRT1177520	hsa-miR-4498	CLIP-seq
MIRT2051350	hsa-miR-4522	CLIP-seq
MIRT1177525	hsa-miR-4656	CLIP-seq
MIRT2578904	hsa-miR-4659a-3p	CLIP-seq
MIRT2578905	hsa-miR-4659b-3p	CLIP-seq
MIRT1177526	hsa-miR-4675	CLIP-seq
MIRT1177533	hsa-miR-4741	CLIP-seq
MIRT1177544	hsa-miR-499-3p	CLIP-seq
MIRT1177545	hsa-miR-499a-3p	CLIP-seq
MIRT2578906	hsa-miR-5096	CLIP-seq
MIRT2051354	hsa-miR-513b	CLIP-seq
MIRT2578907	hsa-miR-515-5p	CLIP-seq
MIRT2051358	hsa-miR-548c-3p	CLIP-seq
MIRT2578908	hsa-miR-760	CLIP-seq
MIRT1177566	hsa-miR-762	CLIP-seq
MIRT2280468	hsa-miR-1182	CLIP-seq
MIRT2578898	hsa-miR-3152-3p	CLIP-seq
MIRT2578899	hsa-miR-3646	CLIP-seq
MIRT2051349	hsa-miR-4457	CLIP-seq
MIRT2051350	hsa-miR-4522	CLIP-seq
MIRT2578906	hsa-miR-5096	CLIP-seq
MIRT2051354	hsa-miR-513b	CLIP-seq
MIRT2051358	hsa-miR-548c-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	17876798
RELA	Unknown	17876798
VDR	Activation	23098689

Gene ontology (GO) Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	18326024
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	12628926, 18052923, 19955185, 20388878
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	17505061, 20388878
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	18052923
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	12628926, 15695367, 20812024
GO:0003714	Function	Transcription corepressor activity	TAS
GO:0005515	Function	Protein binding	IPI	10049357, 11013263, 11486045, 11931768, 12628926, 14525983, 16606617, 16980585, 17500595, 17519354, 17572682, 18952841, 19032343, 19955185, 20543827, 20581824, 20812024, 21258344, 21775429, 21988832, 23752268, 25303530, 26120082, 32814053, 33961781, 35140242, 35271311
GO:0005634	Component	Nucleus	IC	18052923
GO:0005634	Component	Nucleus	IDA	10049357
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0010565	Process	Regulation of ketone metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016922	Function	Nuclear receptor binding	IEA
GO:0016922	Function	Nuclear receptor binding	IPI	9328355
GO:0017053	Component	Transcription repressor complex	IDA	11804585, 12628926
GO:0017053	Component	Transcription repressor complex	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0042826	Function	Histone deacetylase binding	IPI	11804585
GO:0045475	Process	Locomotor rhythm	ISS
GO:0045820	Process	Negative regulation of glycolytic process	IMP	19955185
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	20812024
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045922	Process	Negative regulation of fatty acid metabolic process	IMP	19955185
GO:0046329	Process	Negative regulation of JNK cascade	IDA	11931768
GO:0046966	Function	Nuclear thyroid hormone receptor binding	IBA
GO:0048511	Process	Rhythmic process	IEA
GO:0051225	Process	Spindle assembly	IMP	18326024
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IEA
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IMP	20812024
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19955185
GO:0072686	Component	Mitotic spindle	IDA	18326024
GO:1902894	Process	Negative regulation of miRNA transcription	IEA
GO:1902894	Process	Negative regulation of miRNA transcription	IMP	20388878

Other IDs

• MIM: 600849
• HGNC: 7672
• e!Ensembl: ENSG00000141027

Protein

• UniProt ID: O75376
• Protein name: Nuclear receptor corepressor 1 (N-CoR) (N-CoR1)
• Protein function: Mediates transcriptional repression by certain nuclear receptors (PubMed:20812024). Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription fa
• PDB: 2EQR , 3H52 , 3KMZ , 3N00 , 4MDD , 4WVD , 6ONI , 6WMQ , 6WMS , 6XXS , 6XYX , 6XZZ , 6Y17 , 6ZBU , 8AS9 , 8D8I , 8DKN , 8DKV , 8FHE , 8FHG , 8FKC , 8FKD , 8FKE , 8FKF , 8FKG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00249	Myb_DNA-binding	625 → 670	Myb-like DNA-binding domain	Domain
  PF15784	GPS2_interact	149 → 238	G-protein pathway suppressor 2-interacting domain	Family

• Sequence:

  MSSSGYPPNQGAFSTEQSRYPPHSVQYTFPNTRHQQEFAVPDYRSSHLEVSQASQLLQQQ
  QQQQLRRRPSLLSEFHPGSDRPQERRTSYEPFHPGPSPVDHDSLESKRPRLEQVSDSHFQ
  RVSAAVLPLVHPLPEGLRASADAKKDPAFGGKHEAPSSPISGQPCGDDQNASPSKLSKEE
  LIQSMDRVDREIAKVEQQILKLKKKQQQLEEEAAKPPEPEKPVSPPPVEQKHRSIVQIIY
  DENRKKAEEAHKIFEGLGPKVELPLYNQPSDTKVYHENIKTNQVMRKKLILFFKRRNHAR
  KQREQKICQRYDQLMEAWEKKVDRIENNPRRKAKESKTREYYEKQFPEIRKQREQQERFQ
  RVGQRGAGLSATIARSEHEISEIIDGLSEQENNEKQMRQLSVIPPMMFDAEQRRVKFINM
  NGLMEDPMKVYKDRQFMNVWTDHEKEIFKDKFIQHPKNFGLIASYLERKSVPDCVLYYYL
  TKKNENYKALVRRNYGKRRGRNQQIARPSQEEKVEEKEEDKAEKTEKKEEEKKDEEEKDE
  KEDSKENTKEKDKIDGTAEETEEREQATPRGRKTANSQGRRKGRITRSMTNEAAAASAAA
  AAATEEPPPPLPPPPEPISTEPVETSRWTEEEMEVAKKGLVEHGRNWAAIAKMVGTKSEA
  QCKNFYFNYKRRHNLDNLLQQHKQKTSRKPREERDVSQCESVASTVSAQEDEDIEASNEE
  ENPEDSEVEAVKPSEDSPENATSRGNTEPAVELEPTTETAPSTSPSLAVPSTKPAEDESV
  ETQVNDSISAETAEQMDVDQQEHSAEEGSVCDPPPATKADSVDVEVRVPENHASKVEGDN
  TKERDLDRASEKVEPRDEDLVVAQQINAQRPEPQSDNDSSATCSADEDVDGEPERQRMFP
  MDSKPSLLNPTGSILVSSPLKPNPLDLPQLQHRAAVIPPMVSCTPCNIPIGTPVSGYALY
  QRHIKAMHESALLEEQRQRQEQIDLECRSSTSPCGTSKSPNREWEVLQPAPHQVITNLPE
  GVRLPTTRPTRPPPPLIPSSKTTVASEKPSFIMGGSISQGTPGTYLTSHNQASYTQETPK
  PSVGSISLGLPRQQESAKSATLPYIKQEEFSPRSQNSQPEGLLVRAQHEGVVRGTAGAIQ
  EGSITRGTPTSKISVESIPSLRGSITQGTPALPQTGIPTEALVKGSISRMPIEDSSPEKG
  REEAASKGHVIYEGKSGHILSYDNIKNAREGTRSPRTAHEISLKRSYESVEGNIKQGMSM
  RESPVSAPLEGLICRALPRGSPHSDLKERTVLSGSIMQGTPRATTESFEDGLKYPKQIKR
  ESPPIRAFEGAITKGKPYDGITTIKEMGRSIHEIPRQDILTQESRKTPEVVQSTRPIIEG
  SISQGTPIKFDNNSGQSAIKHNVKSLITGPSKLSRGMPPLEIVPENIKVVERGKYEDVKA
  GETVRSRHTSVVSSGPSVLRSTLHEAPKAQLSPGIYDDTSARRTPVSYQNTMSRGSPMMN
  RTSDVTISSNKSTNHERKSTLTPTQRESIPAKSPVPGVDPVVSHSPFDPHHRGSTAGEVY
  RSHLPTHLDPAMPFHRALDPAAAAYLFQRQLSPTPGYPSQYQLYAMENTRQTILNDYITS
  QQMQVNLRPDVARGLSPREQPLGLPYPATRGIIDLTNMPPTILVPHPGGTSTPPMDRITY
  IPGTQITFPPRPYNSASMSPGHPTHLAAAASAEREREREREKERERERIAAASSDLYLRP
  GSEQPGRPGSHGYVRSPSPSVRTQETMLQQRPSVFQGTNGTSVITPLDPTAQLRIMPLPA
  GGPSISQGLPASRYNTAADALAALVDAAASAPQMDVSKTKESKHEAARLEENLRSRSAAV
  SEQQQLEQKTLEVEKRSVQCLYTSSAFPSGKPQPHSSVVYSEAGKDKGPPPKSRYEEELR
  TRGKTTITAANFIDVIITRQIASDKDARERGSQSSDSSSSLSSHRYETPSDAIEVISPAS
  SPAPPQEKLQTYQPEVVKANQAENDPTRQYEGPLHHYRPQQESPSPQQQLPPSSQAEGMG
  QVPRTHRLITLADHICQIITQDFARNQVSSQTPQQPPTSTFQNSPSALVSTPVRTKTSNR
  YSPESQAQSVHHQRPGSRVSPENLVDKSRGSRPGKSPERSHVSSEPYEPISPPQVPVVHE
  KQDSLLLLSQRGAEPAEQRNDARSPGSISYLPSFFTKLENTSPMVKSKKQEIFRKLNSSG
  GGDSDMAAAQPGTEIFNLPAVTTSGSVSSRGHSFADPASNLGLEDIIRKALMGSFDDKVE
  DHGVVMSQPMGVVPGTANTSVVTSGETRREEGDPSPHSGGVCKPKLISKSNSRKSKSPIP
  GQGYLGTERPSSVSSVHSEGDYHRQTPGWAWEDRPSSTGSTQFPYNPLTMRMLSSTPPTP
  IACAPSAVNQAAPHQQNRIWEREPAPLLSAQYETLSDSDD

• Sequence length: 2440

Pathways

KEGG Pathway	Reactome Pathway
Endocrine resistance	Nuclear signaling by ERBB4
TGF-beta signaling pathway	PPARA activates gene expression
Thyroid hormone signaling pathway	Transcriptional activation of mitochondrial biogenesis
Transcriptional misregulation in cancer	Downregulation of SMAD2/3:SMAD4 transcriptional activity
	Constitutive Signaling by NOTCH1 PEST Domain Mutants
	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	HDACs deacetylate histones
	Notch-HLH transcription pathway
	Transcriptional regulation of white adipocyte differentiation
	Nuclear Receptor transcription pathway
	Regulation of lipid metabolism by PPARalpha
	Circadian Clock
	NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
	HCMV Early Events
	NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis

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
Developmental delay	Likely pathogenic	rs751569508	RCV000497182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperlaxity	Likely pathogenic	rs751569508	RCV000497182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thin skin	Likely pathogenic	rs751569508	RCV000497182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (26)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	19781322	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	21822268	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	22138541	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	17312396	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA, NEONATAL	—	CTD, Disgenet CTD, Disgenet	28167773	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	35729600	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	27064257	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NCOR1-related autism spectrum disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NCOR1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NCOR1-related Neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	27824329, 30289594	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	29610475	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOLYSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	21822268	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (104)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	9819404		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	21390130		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25928846		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	14701861, 16140955, 17699721, 9989813		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30485330		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26498477	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26498477		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	27120335	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30138371, 31529020		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30138371	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21143702	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30138371, 31529020		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	30138371	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30289594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	27824329	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29227976		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16019133, 16609009, 16886664, 20003447, 27806339		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19781322		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19183483, 20003447, 22622808, 27375289, 30305115, 30485330, 30883028, 32441016, 32811538, 33191115, 33962648, 34454393, 36443319, 37925055, 38003265, 39264897	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	31467233	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31072138, 32393195	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34454393	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31661545	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21822268	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28740336		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17630505		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25823659, 27023146, 30039904	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	28923959		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29483668	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	24204704	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29660213		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	17545502		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	14601091, 19414341	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	22138541		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	22138541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22675025	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	19416222		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	26589942		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	21987803, 24550004		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	17312396		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	17312396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	17312396		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12590135		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	12590135	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30485330	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	22349439		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	28167773		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	CTD_human_DG	28167773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	32034166	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	10803578, 28923959		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28126478	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	35687490	Associate	★☆☆☆☆ Found in Text Mining only
Indirect Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	CTD_human_DG	28167773		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29483668	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15729358, 25928846, 28611288	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23426948		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23940660, 25928846, 9819404	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	14701861, 17699721, 21966475, 9531570	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25928846		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16434963		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	27064257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	30485330		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	35687490	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	31467233		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16019133, 16609009, 16886664, 20003447, 27806339		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19781322		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	27064257		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20466759, 26968201		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	21822268		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23149916, 26968201, 27149915		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19781322		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15802375		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19781322		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27806339, 30485330		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19781322		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25823659	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29660213		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11430826, 15300237, 16019133, 17630505, 26589942, 27149915, 28855213, 30039904, 30485330, 31661545		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31661545		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	10690532		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	30039904	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29660213		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30289594		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22349439		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20466759, 26968201		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20466759, 23087083, 25189356, 33058520	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40655182	Stimulate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	28348241	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30138371		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	32520634	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	39299378	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32441016	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	30289594		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19126649, 27699256, 33763074	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	18248679	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33861372	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	19416222		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PABPC1 2 shared diseasesTransitional cell carcinoma, Urinary bladder neoplasms 2 shared evidence sourcesCTD (Transitional cell carcinoma), CTD (Urinary bladder neoplasms) Related via 2 shared diseases including Transitional cell carcinoma, Urinary bladder neoplasms — evidence mostly CTD. GGH 2 shared diseasesTransitional cell carcinoma, Urinary bladder neoplasms 2 shared evidence sourcesCTD (Transitional cell carcinoma), CTD (Urinary bladder neoplasms) Related via 2 shared diseases including Transitional cell carcinoma, Urinary bladder neoplasms — evidence mostly CTD. ATP5F1D 2 shared diseasesMitochondrial complex deficiency, Urinary bladder neoplasms 2 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), CTD (Urinary bladder neoplasms) Related via 2 shared diseases including Mitochondrial complex deficiency, Urinary bladder neoplasms — evidence mostly Disgenet. ESPL1 2 shared diseasesTransitional cell carcinoma, Urinary bladder neoplasms 2 shared evidence sourcesCTD (Transitional cell carcinoma), CTD (Urinary bladder neoplasms) Related via 2 shared diseases including Transitional cell carcinoma, Urinary bladder neoplasms — evidence mostly CTD. MED1 8 shared pathwaysEndocrine resistance, Thyroid hormone signaling pathway, PPARA activates gene expression, Transcriptional regulation of white adipocyte differentiation, Nuclear Receptor transcription pathway, Transcriptional activation of mitochondrial biogenesis, Regulation of lipid metabolism by PPARalpha, Circadian Clock 2 shared evidence sourcesCTD (Endometriosis), Disgenet (Endometriosis) Related via 8 shared pathways including Endocrine resistance, Thyroid hormone signaling pathway — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PABPC1	2	["Transitional cell carcinoma","Urinary bladder neoplasms"]	0	[]	2	["CTD (Transitional cell carcinoma)","CTD (Urinary bladder neoplasms)"]
GGH	2	["Transitional cell carcinoma","Urinary bladder neoplasms"]	0	[]	2	["CTD (Transitional cell carcinoma)","CTD (Urinary bladder neoplasms)"]
ATP5F1D	2	["Mitochondrial complex deficiency","Urinary bladder neoplasms"]	0	[]	2	["Disgenet (Mitochondrial complex deficiency)","CTD (Urinary bladder neoplasms)"]
ESPL1	2	["Transitional cell carcinoma","Urinary bladder neoplasms"]	0	[]	2	["CTD (Transitional cell carcinoma)","CTD (Urinary bladder neoplasms)"]
MED1	0	[]	8	["Endocrine resistance","Thyroid hormone signaling pathway","PPARA activates gene expression","Transcriptional regulation of white adipocyte differentiation","Nuclear Receptor transcription pathway","Transcriptional activation of mitochondrial biogenesis","Regulation of lipid metabolism by PPARalpha","Circadian Clock"]	2	["CTD (Endometriosis)","Disgenet (Endometriosis)"]

Diseases Linked via Similar Genes

Congenital pulmonary artery atresia Linked via 1 of 5 related genesPABPC1 Intellectual developmental disorder Linked via 1 of 5 related genesPABPC1 Rheumatoid arthritis Linked via 1 of 5 related genesGGH Colorectal neoplasms Linked via 1 of 5 related genesGGH Mitochondrial disease Linked via 1 of 5 related genesATP5F1D

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Congenital pulmonary artery atresia	1	["PABPC1"]
Intellectual developmental disorder	1	["PABPC1"]
Rheumatoid arthritis	1	["GGH"]
Colorectal neoplasms	1	["GGH"]
Mitochondrial disease	1	["ATP5F1D"]