CRTC1 (CREB regulated transcription coactivator 1)

Gene

• Entrez ID: 23373
• Gene name: CREB regulated transcription coactivator 1
• Gene symbol: CRTC1
• Synonyms (NCBI Gene): MAML2, MECT1, Mam-2, TORC-1, TORC1, WAMTP1
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045900	hsa-miR-125b-5p	CLASH	23622248
MIRT718115	hsa-miR-1470	HITS-CLIP	19536157
MIRT718114	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT718113	hsa-miR-5193	HITS-CLIP	19536157
MIRT718111	hsa-miR-3183	HITS-CLIP	19536157
MIRT718112	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT718110	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT718109	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718108	hsa-miR-6134	HITS-CLIP	19536157
MIRT718107	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT718106	hsa-miR-3945	HITS-CLIP	19536157
MIRT718105	hsa-miR-4253	HITS-CLIP	19536157
MIRT718104	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT718103	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT718102	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT718101	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT540392	hsa-miR-3667-5p	PAR-CLIP	21572407
MIRT540393	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT540391	hsa-miR-451b	PAR-CLIP	21572407
MIRT540390	hsa-miR-3675-3p	PAR-CLIP	21572407
MIRT540389	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT540388	hsa-miR-4696	PAR-CLIP	21572407
MIRT507624	hsa-miR-212-3p	PAR-CLIP	23446348
MIRT507623	hsa-miR-132-3p	PAR-CLIP	23446348
MIRT507622	hsa-miR-4787-3p	PAR-CLIP	23446348
MIRT507621	hsa-miR-4638-3p	PAR-CLIP	23446348
MIRT540393	hsa-miR-3120-3p	PAR-CLIP	27292025
MIRT540393	hsa-miR-3120-3p	PAR-CLIP	27292025
MIRT540393	hsa-miR-3120-3p	PAR-CLIP	27292025
MIRT540392	hsa-miR-3667-5p	PAR-CLIP	27292025
MIRT540392	hsa-miR-3667-5p	PAR-CLIP	27292025
MIRT540392	hsa-miR-3667-5p	PAR-CLIP	27292025
MIRT540390	hsa-miR-3675-3p	PAR-CLIP	27292025
MIRT540390	hsa-miR-3675-3p	PAR-CLIP	27292025
MIRT540390	hsa-miR-3675-3p	PAR-CLIP	27292025
MIRT540391	hsa-miR-451b	PAR-CLIP	27292025
MIRT540391	hsa-miR-451b	PAR-CLIP	27292025
MIRT540391	hsa-miR-451b	PAR-CLIP	27292025
MIRT540388	hsa-miR-4696	PAR-CLIP	27292025
MIRT540388	hsa-miR-4696	PAR-CLIP	27292025
MIRT540388	hsa-miR-4696	PAR-CLIP	27292025
MIRT540389	hsa-miR-520f-5p	PAR-CLIP	27292025
MIRT540389	hsa-miR-520f-5p	PAR-CLIP	27292025
MIRT540389	hsa-miR-520f-5p	PAR-CLIP	27292025
MIRT718115	hsa-miR-1470	HITS-CLIP	19536157
MIRT718114	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT718113	hsa-miR-5193	HITS-CLIP	19536157
MIRT718111	hsa-miR-3183	HITS-CLIP	19536157
MIRT718112	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT718110	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT718109	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT718108	hsa-miR-6134	HITS-CLIP	19536157
MIRT718107	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT718106	hsa-miR-3945	HITS-CLIP	19536157
MIRT718105	hsa-miR-4253	HITS-CLIP	19536157
MIRT718104	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT718103	hsa-miR-541-3p	HITS-CLIP	19536157
MIRT718102	hsa-miR-654-5p	HITS-CLIP	19536157
MIRT718101	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT540392	hsa-miR-3667-5p	PAR-CLIP	21572407
MIRT540393	hsa-miR-3120-3p	PAR-CLIP	21572407
MIRT540391	hsa-miR-451b	PAR-CLIP	21572407
MIRT540390	hsa-miR-3675-3p	PAR-CLIP	21572407
MIRT540389	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT540388	hsa-miR-4696	PAR-CLIP	21572407
MIRT507624	hsa-miR-212-3p	PAR-CLIP	23446348
MIRT507623	hsa-miR-132-3p	PAR-CLIP	23446348
MIRT507622	hsa-miR-4787-3p	PAR-CLIP	23446348
MIRT507621	hsa-miR-4638-3p	PAR-CLIP	23446348
MIRT910738	hsa-miR-1248	CLIP-seq
MIRT910739	hsa-miR-1289	CLIP-seq
MIRT910740	hsa-miR-129-3p	CLIP-seq
MIRT910741	hsa-miR-2052	CLIP-seq
MIRT910742	hsa-miR-3192	CLIP-seq
MIRT910743	hsa-miR-3194-5p	CLIP-seq
MIRT910744	hsa-miR-326	CLIP-seq
MIRT910745	hsa-miR-330-5p	CLIP-seq
MIRT910746	hsa-miR-4269	CLIP-seq
MIRT910747	hsa-miR-4284	CLIP-seq
MIRT910748	hsa-miR-4297	CLIP-seq
MIRT910749	hsa-miR-4314	CLIP-seq
MIRT910750	hsa-miR-4433	CLIP-seq
MIRT910751	hsa-miR-4639-3p	CLIP-seq
MIRT910752	hsa-miR-4646-5p	CLIP-seq
MIRT910753	hsa-miR-4684-5p	CLIP-seq
MIRT910754	hsa-miR-4690-5p	CLIP-seq
MIRT910755	hsa-miR-4773	CLIP-seq
MIRT910756	hsa-miR-4786-5p	CLIP-seq
MIRT910757	hsa-miR-532-5p	CLIP-seq
MIRT910758	hsa-miR-570	CLIP-seq
MIRT910759	hsa-miR-665	CLIP-seq
MIRT910760	hsa-miR-922	CLIP-seq
MIRT910761	hsa-miR-1227	CLIP-seq
MIRT910762	hsa-miR-125a-5p	CLIP-seq
MIRT910763	hsa-miR-125b	CLIP-seq
MIRT910764	hsa-miR-1275	CLIP-seq
MIRT910765	hsa-miR-1281	CLIP-seq
MIRT910766	hsa-miR-1285	CLIP-seq
MIRT910767	hsa-miR-1291	CLIP-seq
MIRT910768	hsa-miR-1306	CLIP-seq
MIRT910769	hsa-miR-1587	CLIP-seq
MIRT910770	hsa-miR-15a	CLIP-seq
MIRT910771	hsa-miR-15b	CLIP-seq
MIRT910772	hsa-miR-16	CLIP-seq
MIRT910773	hsa-miR-184	CLIP-seq
MIRT910774	hsa-miR-195	CLIP-seq
MIRT910775	hsa-miR-3126-5p	CLIP-seq
MIRT910776	hsa-miR-3144-5p	CLIP-seq
MIRT738274	hsa-miR-3150a-3p	CLIP-seq
MIRT910777	hsa-miR-3151	CLIP-seq
MIRT738276	hsa-miR-3175	CLIP-seq
MIRT910778	hsa-miR-3177-3p	CLIP-seq
MIRT910779	hsa-miR-3180	CLIP-seq
MIRT910780	hsa-miR-3180-3p	CLIP-seq
MIRT910781	hsa-miR-3187-5p	CLIP-seq
MIRT910782	hsa-miR-3196	CLIP-seq
MIRT910783	hsa-miR-331-3p	CLIP-seq
MIRT910784	hsa-miR-3612	CLIP-seq
MIRT910785	hsa-miR-361-3p	CLIP-seq
MIRT910786	hsa-miR-377	CLIP-seq
MIRT910787	hsa-miR-3940-3p	CLIP-seq
MIRT910788	hsa-miR-412	CLIP-seq
MIRT910789	hsa-miR-424	CLIP-seq
MIRT910790	hsa-miR-4283	CLIP-seq
MIRT910747	hsa-miR-4284	CLIP-seq
MIRT910791	hsa-miR-4292	CLIP-seq
MIRT910792	hsa-miR-4308	CLIP-seq
MIRT910793	hsa-miR-4319	CLIP-seq
MIRT910794	hsa-miR-4324	CLIP-seq
MIRT910795	hsa-miR-4437	CLIP-seq
MIRT910796	hsa-miR-4443	CLIP-seq
MIRT910797	hsa-miR-4450	CLIP-seq
MIRT910798	hsa-miR-4459	CLIP-seq
MIRT910799	hsa-miR-4467	CLIP-seq
MIRT910800	hsa-miR-4474-3p	CLIP-seq
MIRT910801	hsa-miR-4489	CLIP-seq
MIRT738283	hsa-miR-4492	CLIP-seq
MIRT738282	hsa-miR-4498	CLIP-seq
MIRT738280	hsa-miR-4505	CLIP-seq
MIRT910802	hsa-miR-4521	CLIP-seq
MIRT910803	hsa-miR-4525	CLIP-seq
MIRT910804	hsa-miR-4532	CLIP-seq
MIRT910751	hsa-miR-4639-3p	CLIP-seq
MIRT910805	hsa-miR-4656	CLIP-seq
MIRT910806	hsa-miR-4665-5p	CLIP-seq
MIRT738277	hsa-miR-4667-5p	CLIP-seq
MIRT910807	hsa-miR-4675	CLIP-seq
MIRT910753	hsa-miR-4684-5p	CLIP-seq
MIRT910808	hsa-miR-4694-3p	CLIP-seq
MIRT738278	hsa-miR-4700-5p	CLIP-seq
MIRT738284	hsa-miR-4707-5p	CLIP-seq
MIRT910809	hsa-miR-4723-5p	CLIP-seq
MIRT910810	hsa-miR-4730	CLIP-seq
MIRT738279	hsa-miR-4731-5p	CLIP-seq
MIRT910811	hsa-miR-4741	CLIP-seq
MIRT910812	hsa-miR-4759	CLIP-seq
MIRT910813	hsa-miR-4802-5p	CLIP-seq
MIRT910814	hsa-miR-497	CLIP-seq
MIRT910815	hsa-miR-566	CLIP-seq
MIRT910816	hsa-miR-603	CLIP-seq
MIRT910817	hsa-miR-612	CLIP-seq
MIRT910818	hsa-miR-625	CLIP-seq
MIRT910819	hsa-miR-637	CLIP-seq
MIRT910820	hsa-miR-650	CLIP-seq
MIRT910821	hsa-miR-661	CLIP-seq
MIRT910759	hsa-miR-665	CLIP-seq
MIRT738281	hsa-miR-762	CLIP-seq
MIRT910822	hsa-miR-765	CLIP-seq
MIRT738275	hsa-miR-939	CLIP-seq
MIRT738274	hsa-miR-3150a-3p	CLIP-seq
MIRT738276	hsa-miR-3175	CLIP-seq
MIRT738283	hsa-miR-4492	CLIP-seq
MIRT738282	hsa-miR-4498	CLIP-seq
MIRT738280	hsa-miR-4505	CLIP-seq
MIRT738277	hsa-miR-4667-5p	CLIP-seq
MIRT738278	hsa-miR-4700-5p	CLIP-seq
MIRT738284	hsa-miR-4707-5p	CLIP-seq
MIRT738279	hsa-miR-4731-5p	CLIP-seq
MIRT738281	hsa-miR-762	CLIP-seq
MIRT738275	hsa-miR-939	CLIP-seq
MIRT1970025	hsa-miR-3064-5p	CLIP-seq
MIRT738280	hsa-miR-4505	CLIP-seq
MIRT1970026	hsa-miR-1908	CLIP-seq
MIRT1970027	hsa-miR-1972	CLIP-seq
MIRT1970028	hsa-miR-24	CLIP-seq
MIRT738274	hsa-miR-3150a-3p	CLIP-seq
MIRT910777	hsa-miR-3151	CLIP-seq
MIRT738276	hsa-miR-3175	CLIP-seq
MIRT910778	hsa-miR-3177-3p	CLIP-seq
MIRT910779	hsa-miR-3180	CLIP-seq
MIRT910780	hsa-miR-3180-3p	CLIP-seq
MIRT1970029	hsa-miR-3180-5p	CLIP-seq
MIRT1970030	hsa-miR-3191	CLIP-seq
MIRT910782	hsa-miR-3196	CLIP-seq
MIRT910786	hsa-miR-377	CLIP-seq
MIRT910788	hsa-miR-412	CLIP-seq
MIRT910790	hsa-miR-4283	CLIP-seq
MIRT910747	hsa-miR-4284	CLIP-seq
MIRT1970031	hsa-miR-4419a	CLIP-seq
MIRT910795	hsa-miR-4437	CLIP-seq
MIRT910799	hsa-miR-4467	CLIP-seq
MIRT1970032	hsa-miR-4488	CLIP-seq
MIRT910801	hsa-miR-4489	CLIP-seq
MIRT738283	hsa-miR-4492	CLIP-seq
MIRT738282	hsa-miR-4498	CLIP-seq
MIRT738280	hsa-miR-4505	CLIP-seq
MIRT1970033	hsa-miR-4508	CLIP-seq
MIRT1970034	hsa-miR-4510	CLIP-seq
MIRT910804	hsa-miR-4532	CLIP-seq
MIRT910751	hsa-miR-4639-3p	CLIP-seq
MIRT1970035	hsa-miR-4642	CLIP-seq
MIRT1970036	hsa-miR-4649-5p	CLIP-seq
MIRT1970037	hsa-miR-4650-5p	CLIP-seq
MIRT738277	hsa-miR-4667-5p	CLIP-seq
MIRT910753	hsa-miR-4684-5p	CLIP-seq
MIRT1970038	hsa-miR-4697-5p	CLIP-seq
MIRT738278	hsa-miR-4700-5p	CLIP-seq
MIRT738284	hsa-miR-4707-5p	CLIP-seq
MIRT738279	hsa-miR-4731-5p	CLIP-seq
MIRT1970039	hsa-miR-491-5p	CLIP-seq
MIRT1970040	hsa-miR-5095	CLIP-seq
MIRT1970041	hsa-miR-520a-5p	CLIP-seq
MIRT1970042	hsa-miR-525-5p	CLIP-seq
MIRT1970043	hsa-miR-600	CLIP-seq
MIRT910816	hsa-miR-603	CLIP-seq
MIRT910819	hsa-miR-637	CLIP-seq
MIRT1970044	hsa-miR-663	CLIP-seq
MIRT738281	hsa-miR-762	CLIP-seq
MIRT910760	hsa-miR-922	CLIP-seq
MIRT738275	hsa-miR-939	CLIP-seq
MIRT910764	hsa-miR-1275	CLIP-seq
MIRT910766	hsa-miR-1285	CLIP-seq
MIRT2205997	hsa-miR-132	CLIP-seq
MIRT2205998	hsa-miR-212	CLIP-seq
MIRT2205999	hsa-miR-2355-5p	CLIP-seq
MIRT2206000	hsa-miR-2682	CLIP-seq
MIRT2206001	hsa-miR-298	CLIP-seq
MIRT2206002	hsa-miR-3127-5p	CLIP-seq
MIRT2206003	hsa-miR-3163	CLIP-seq
MIRT910781	hsa-miR-3187-5p	CLIP-seq
MIRT2206004	hsa-miR-34a	CLIP-seq
MIRT2206005	hsa-miR-34c-5p	CLIP-seq
MIRT910785	hsa-miR-361-3p	CLIP-seq
MIRT2206006	hsa-miR-3714	CLIP-seq
MIRT910786	hsa-miR-377	CLIP-seq
MIRT2206007	hsa-miR-383	CLIP-seq
MIRT2206008	hsa-miR-3918	CLIP-seq
MIRT910788	hsa-miR-412	CLIP-seq
MIRT2206009	hsa-miR-4260	CLIP-seq
MIRT2206010	hsa-miR-4300	CLIP-seq
MIRT2206011	hsa-miR-4476	CLIP-seq
MIRT2206012	hsa-miR-4487	CLIP-seq
MIRT2206013	hsa-miR-449a	CLIP-seq
MIRT2206014	hsa-miR-449b	CLIP-seq
MIRT2206015	hsa-miR-449c	CLIP-seq
MIRT910803	hsa-miR-4525	CLIP-seq
MIRT1970035	hsa-miR-4642	CLIP-seq
MIRT1970037	hsa-miR-4650-5p	CLIP-seq
MIRT910806	hsa-miR-4665-5p	CLIP-seq
MIRT2206016	hsa-miR-4722-3p	CLIP-seq
MIRT910755	hsa-miR-4773	CLIP-seq
MIRT910756	hsa-miR-4786-5p	CLIP-seq
MIRT2206017	hsa-miR-558	CLIP-seq
MIRT910816	hsa-miR-603	CLIP-seq
MIRT910817	hsa-miR-612	CLIP-seq
MIRT910819	hsa-miR-637	CLIP-seq
MIRT910821	hsa-miR-661	CLIP-seq
MIRT910759	hsa-miR-665	CLIP-seq
MIRT2206018	hsa-miR-920	CLIP-seq
MIRT910760	hsa-miR-922	CLIP-seq
MIRT2386482	hsa-miR-1228	CLIP-seq
MIRT2386483	hsa-miR-4711-3p	CLIP-seq
MIRT910816	hsa-miR-603	CLIP-seq
MIRT738274	hsa-miR-3150a-3p	CLIP-seq
MIRT738276	hsa-miR-3175	CLIP-seq
MIRT738283	hsa-miR-4492	CLIP-seq
MIRT738282	hsa-miR-4498	CLIP-seq
MIRT738280	hsa-miR-4505	CLIP-seq
MIRT738277	hsa-miR-4667-5p	CLIP-seq
MIRT738278	hsa-miR-4700-5p	CLIP-seq
MIRT738284	hsa-miR-4707-5p	CLIP-seq
MIRT738279	hsa-miR-4731-5p	CLIP-seq
MIRT738281	hsa-miR-762	CLIP-seq
MIRT738275	hsa-miR-939	CLIP-seq
MIRT738274	hsa-miR-3150a-3p	CLIP-seq
MIRT738276	hsa-miR-3175	CLIP-seq
MIRT738283	hsa-miR-4492	CLIP-seq
MIRT738282	hsa-miR-4498	CLIP-seq
MIRT738280	hsa-miR-4505	CLIP-seq
MIRT738277	hsa-miR-4667-5p	CLIP-seq
MIRT738278	hsa-miR-4700-5p	CLIP-seq
MIRT738284	hsa-miR-4707-5p	CLIP-seq
MIRT738279	hsa-miR-4731-5p	CLIP-seq
MIRT738281	hsa-miR-762	CLIP-seq
MIRT738275	hsa-miR-939	CLIP-seq
MIRT2206003	hsa-miR-3163	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	17334997

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0005515	Function	Protein binding	IPI	14506290, 20936779, 32296183, 35271311, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14506290
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0007613	Process	Memory	IEA
GO:0008140	Function	CAMP response element binding protein binding	IBA
GO:0008140	Function	CAMP response element binding protein binding	IDA	14536081
GO:0008140	Function	CAMP response element binding protein binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0032793	Process	Positive regulation of CREB transcription factor activity	ISS
GO:0043153	Process	Entrainment of circadian clock by photoperiod	IEA
GO:0043153	Process	Entrainment of circadian clock by photoperiod	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	14536081
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0051289	Process	Protein homotetramerization	IEA
GO:0071320	Process	Cellular response to cAMP	IBA
GO:0097009	Process	Energy homeostasis	IEA
GO:1902631	Process	Negative regulation of membrane hyperpolarization	IEA

Other IDs

• MIM: 607536
• HGNC: 16062
• e!Ensembl: ENSG00000105662

Protein

• UniProt ID: Q6UUV9
• Protein name: CREB-regulated transcription coactivator 1 (Mucoepidermoid carcinoma translocated protein 1) (Transducer of regulated cAMP response element-binding protein 1) (TORC-1) (Transducer of CREB protein 1)
• Protein function: Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts indep
• PDB: 7D8H, 7D8P, 7D9V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12884	TORC_N	6 → 66	Transducer of regulated CREB activity, N terminus	Family
  PF12885	TORC_M	148 → 293	Transducer of regulated CREB activity middle domain	Family
  PF12886	TORC_C	559 → 634	Transducer of regulated CREB activity, C terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in adult and fetal brain. Located to specific regions such as the prefrontal cortex and cerebellum. Very low expression in other tissues such as heart, spleen, lung, skeletal muscle, salivary gland, ovary and kidney. {
• Sequence:

  MATSNNPRKFSEKIALHNQKQAEETAAFEEVMKDLSLTRAARLQLQKSQYLQLGPSRGQY
  YGGSLPNVNQIGSGTMDLPFQTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLS
  VDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRV
  LLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATH
  NTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTP
  GSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQAVAMDALSLEQQLPYAFFTQAGS
  QQPPPQPQPPPPPPPASQQPPPPPPPQAPVRLPPGGPLLPSASLTRGPQPPPLAVTVPSS
  LPQSPPENPGQPSMGIDIASAPALQQYRTSAGSPANQSPTSPVSNQGFSPGSSPQHTSTL
  GSVFGDAYYEQQMAARQANALSHQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGS
  HGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSSLAGVGDVSFDSDSQFPLDEL
  KIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL

• Sequence length: 634

Pathways

KEGG:

Human T-cell leukemia virus 1 infection

Reactome:

Transcriptional activation of mitochondrial biogenesis
Circadian Clock

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma Of Esophagus	Esophageal Cancer	CTD_human_DG	24121790		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASDB_DG	24121790		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	24121790, 27527254		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	25447851		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27094739	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amnesia	Amnesia	BEFREE	24760838		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27094739		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29225348	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	30521840		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	22805177	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31133888		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASDB_DG	24121790		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	24121790, 27527254		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25447851		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25447851, 34505128, 35766871	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	30682771		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	22805177	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30380176, 31978326	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25300488	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	15269296, 19164581, 19749740, 20625861, 23018873, 23035786, 24893972, 26503699, 27340278, 28438292, 31351495, 32221865, 36366450, 39332274, 39888274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17618868, 20010869, 23074285, 25465874		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	31153815	Associate	★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	31276279		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26759481		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30797172		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	22805177		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19269006		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27002284, 29217834, 30503507, 30697736, 30874310		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	27002284	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31153815	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30939476		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21613227		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	31385336		★☆☆☆☆ Found in Text Mining only
Digestive System Disorders	Digestive System Disorders	GWASCAT_DG	24121790		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28788436		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27869139		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	26158631		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	26158631		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	GWASCAT_DG	24121790		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31308077		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28829944		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22589249		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30521840		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30521840		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26759481		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	GWASCAT_DG	24121790		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20417695		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22685542	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20010869, 25465874	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27002284		★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	27060162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	22685542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20010869, 23074285, 25465874		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31037562		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	16652146		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17334997, 20837164, 22184110, 26676751, 28788436, 30758651, 31546204		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23903755		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27002284, 29217834, 30503507, 30697736, 30874310		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	22592058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	29217834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	LHGDN	12539049, 14720503, 16818685, 17437281, 18181164, 18206539, 19164581		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	14720503, 15269296, 15729701, 16444749, 16652146, 16818685, 17334997, 17437281, 17539914, 17618868, 18050304, 18486532, 18647217, 19092631, 19185385, 19269006, 19438452, 19521953, 19531414, 19578770, 19749740, 20588178, 20837164, 21074686, 21243374, 21668476, 21676434, 21777943, 22323114, 22847156, 23018873, 23035786, 23830771, 23975434, 24121173, 25990369, 26255977, 26297211, 26316332, 26457352, 26503699, 27340278, 27393417, 28006088, 28438292, 29076877, 29353885, 30138216, 30380176, 30605061, 30954307, 31351495, 31661572		★☆☆☆☆ Found in Text Mining only
Mucolipidosis Type IV	Mucolipidosis	BEFREE	23047439		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20686120, 22045983, 31395691		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22556409	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17551948		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14720503, 15729701, 16444749, 16652146, 16818685, 17334997, 17618868, 18181164, 18198340, 19092631, 19531414, 19578770, 19749740, 20010869, 21074686, 21668476, 22323114, 22847156, 23018873, 23035786, 23903755, 24429254, 25071166, 25990369, 26221861, 27340278, 27393417, 27402217, 28343305, 30475407, 30711520, 31522863		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27869139		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23925723, 29217834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	23925723, 27002284, 31153815, 31878957, 34588385	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	31037562		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18776922		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	22685542		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	28582547		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	15961999, 19827123, 20010869, 30380176	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29533464		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	29533464	Associate	★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	17551948		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27869139		★☆☆☆☆ Found in Text Mining only
Thoracic Neoplasms	Thoracic neoplasm	Pubtator	20010869	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26676751		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26676751	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	22805177, 31799751		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	22805177	Associate	★☆☆☆☆ Found in Text Mining only