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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1487
Gene name Gene Name - the full gene name approved by the HGNC.	C-terminal binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTBP1
Synonyms (NCBI Gene) Gene synonyms aliases	BARS, HADDTS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HADDTS
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2

Show/Hide all(254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005605	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21278922
MIRT005605	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21278922
MIRT005605	hsa-miR-137	Reporter assay;Other	21278922
MIRT024026	hsa-miR-1-3p	Proteomics	18668040
MIRT050145	hsa-miR-26a-5p	CLASH	23622248
MIRT047493	hsa-miR-10b-5p	CLASH	23622248
MIRT036611	hsa-miR-940	CLASH	23622248
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT499067	hsa-miR-4289	PAR-CLIP	21572407
MIRT499066	hsa-miR-4324	PAR-CLIP	21572407
MIRT499065	hsa-miR-544b	PAR-CLIP	21572407
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	21572407
MIRT499064	hsa-miR-4251	PAR-CLIP	21572407
MIRT499063	hsa-miR-1253	PAR-CLIP	21572407
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	21572407
MIRT499060	hsa-miR-1200	PAR-CLIP	21572407
MIRT499059	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT499058	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	24398324
MIRT499067	hsa-miR-4289	PAR-CLIP	24398324
MIRT499066	hsa-miR-4324	PAR-CLIP	24398324
MIRT499065	hsa-miR-544b	PAR-CLIP	24398324
MIRT499064	hsa-miR-4251	PAR-CLIP	24398324
MIRT499063	hsa-miR-1253	PAR-CLIP	24398324
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	24398324
MIRT499060	hsa-miR-1200	PAR-CLIP	24398324
MIRT499059	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT499058	hsa-miR-676-3p	PAR-CLIP	24398324
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	24398324
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	24398324
MIRT499060	hsa-miR-1200	PAR-CLIP	26701625
MIRT499060	hsa-miR-1200	PAR-CLIP	26701625
MIRT499060	hsa-miR-1200	PAR-CLIP	26701625
MIRT499063	hsa-miR-1253	PAR-CLIP	26701625
MIRT499063	hsa-miR-1253	PAR-CLIP	26701625
MIRT499063	hsa-miR-1253	PAR-CLIP	26701625
MIRT499059	hsa-miR-192-3p	PAR-CLIP	26701625
MIRT499059	hsa-miR-192-3p	PAR-CLIP	26701625
MIRT499059	hsa-miR-192-3p	PAR-CLIP	26701625
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT499064	hsa-miR-4251	PAR-CLIP	26701625
MIRT499064	hsa-miR-4251	PAR-CLIP	26701625
MIRT499064	hsa-miR-4251	PAR-CLIP	26701625
MIRT499067	hsa-miR-4289	PAR-CLIP	26701625
MIRT499067	hsa-miR-4289	PAR-CLIP	26701625
MIRT499067	hsa-miR-4289	PAR-CLIP	26701625
MIRT499066	hsa-miR-4324	PAR-CLIP	26701625
MIRT499066	hsa-miR-4324	PAR-CLIP	26701625
MIRT499066	hsa-miR-4324	PAR-CLIP	26701625
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	26701625
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	26701625
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	26701625
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	26701625
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	26701625
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	26701625
MIRT499065	hsa-miR-544b	PAR-CLIP	26701625
MIRT499065	hsa-miR-544b	PAR-CLIP	26701625
MIRT499065	hsa-miR-544b	PAR-CLIP	26701625
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	26701625
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	26701625
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	26701625
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	26701625
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	26701625
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	26701625
MIRT499058	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT499058	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT499058	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT499060	hsa-miR-1200	PAR-CLIP	27292025
MIRT499063	hsa-miR-1253	PAR-CLIP	27292025
MIRT499059	hsa-miR-192-3p	PAR-CLIP	27292025
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	27292025
MIRT499064	hsa-miR-4251	PAR-CLIP	27292025
MIRT499067	hsa-miR-4289	PAR-CLIP	27292025
MIRT499066	hsa-miR-4324	PAR-CLIP	27292025
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	27292025
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	27292025
MIRT499065	hsa-miR-544b	PAR-CLIP	27292025
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	27292025
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	27292025
MIRT499058	hsa-miR-676-3p	PAR-CLIP	27292025
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT737461	hsa-miR-539-3p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	31933979
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT499067	hsa-miR-4289	PAR-CLIP	21572407
MIRT499066	hsa-miR-4324	PAR-CLIP	21572407
MIRT499065	hsa-miR-544b	PAR-CLIP	21572407
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	21572407
MIRT499064	hsa-miR-4251	PAR-CLIP	21572407
MIRT499063	hsa-miR-1253	PAR-CLIP	21572407
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	21572407
MIRT499060	hsa-miR-1200	PAR-CLIP	21572407
MIRT499059	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT499058	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	24398324
MIRT499067	hsa-miR-4289	PAR-CLIP	24398324
MIRT499066	hsa-miR-4324	PAR-CLIP	24398324
MIRT499065	hsa-miR-544b	PAR-CLIP	24398324
MIRT499064	hsa-miR-4251	PAR-CLIP	24398324
MIRT499063	hsa-miR-1253	PAR-CLIP	24398324
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	24398324
MIRT499060	hsa-miR-1200	PAR-CLIP	24398324
MIRT499059	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT499058	hsa-miR-676-3p	PAR-CLIP	24398324
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	24398324
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	24398324
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT913743	hsa-miR-4633-3p	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT913750	hsa-miR-1197	CLIP-seq
MIRT913751	hsa-miR-1281	CLIP-seq
MIRT913752	hsa-miR-184	CLIP-seq
MIRT913753	hsa-miR-1913	CLIP-seq
MIRT913754	hsa-miR-2277-3p	CLIP-seq
MIRT913755	hsa-miR-324-3p	CLIP-seq
MIRT913756	hsa-miR-3660	CLIP-seq
MIRT913757	hsa-miR-3928	CLIP-seq
MIRT913758	hsa-miR-4258	CLIP-seq
MIRT913759	hsa-miR-4313	CLIP-seq
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT913760	hsa-miR-4526	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT913761	hsa-miR-4700-3p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT913762	hsa-miR-4738-5p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT913763	hsa-miR-664	CLIP-seq
MIRT913764	hsa-miR-676	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1556208	hsa-miR-606	CLIP-seq
MIRT1970949	hsa-miR-105	CLIP-seq
MIRT913750	hsa-miR-1197	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1970950	hsa-miR-1285	CLIP-seq
MIRT1970951	hsa-miR-1286	CLIP-seq
MIRT1970952	hsa-miR-140-3p	CLIP-seq
MIRT913752	hsa-miR-184	CLIP-seq
MIRT1970953	hsa-miR-1908	CLIP-seq
MIRT1970954	hsa-miR-205	CLIP-seq
MIRT1970955	hsa-miR-214	CLIP-seq
MIRT913754	hsa-miR-2277-3p	CLIP-seq
MIRT1970956	hsa-miR-2355-5p	CLIP-seq
MIRT1970957	hsa-miR-3187-5p	CLIP-seq
MIRT1970958	hsa-miR-3191	CLIP-seq
MIRT1970959	hsa-miR-339-3p	CLIP-seq
MIRT1970960	hsa-miR-3619-5p	CLIP-seq
MIRT1970961	hsa-miR-3937	CLIP-seq
MIRT1970962	hsa-miR-409-5p	CLIP-seq
MIRT1970963	hsa-miR-4268	CLIP-seq
MIRT1970964	hsa-miR-4291	CLIP-seq
MIRT1970965	hsa-miR-4436a	CLIP-seq
MIRT1970966	hsa-miR-4436b-3p	CLIP-seq
MIRT1970967	hsa-miR-4448	CLIP-seq
MIRT913761	hsa-miR-4700-3p	CLIP-seq
MIRT1970968	hsa-miR-4704-3p	CLIP-seq
MIRT1970969	hsa-miR-4706	CLIP-seq
MIRT1970970	hsa-miR-4715-3p	CLIP-seq
MIRT1970971	hsa-miR-4719	CLIP-seq
MIRT1970972	hsa-miR-4749-5p	CLIP-seq
MIRT1970973	hsa-miR-522	CLIP-seq
MIRT1970974	hsa-miR-548q	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT1970975	hsa-miR-582-5p	CLIP-seq
MIRT1970976	hsa-miR-612	CLIP-seq
MIRT1970977	hsa-miR-617	CLIP-seq
MIRT1970978	hsa-miR-621	CLIP-seq
MIRT1970979	hsa-miR-653	CLIP-seq
MIRT1970980	hsa-miR-663	CLIP-seq
MIRT1970981	hsa-miR-761	CLIP-seq
MIRT1970982	hsa-miR-885-3p	CLIP-seq
MIRT1970983	hsa-miR-922	CLIP-seq
MIRT1970968	hsa-miR-4704-3p	CLIP-seq
MIRT1970971	hsa-miR-4719	CLIP-seq
MIRT913750	hsa-miR-1197	CLIP-seq
MIRT1970959	hsa-miR-339-3p	CLIP-seq
MIRT1970966	hsa-miR-4436b-3p	CLIP-seq
MIRT1556208	hsa-miR-606	CLIP-seq
MIRT1970977	hsa-miR-617	CLIP-seq
MIRT2447747	hsa-miR-147	CLIP-seq
MIRT2447748	hsa-miR-3688-5p	CLIP-seq
MIRT2447749	hsa-miR-3911	CLIP-seq
MIRT2447750	hsa-miR-644	CLIP-seq
MIRT2447751	hsa-miR-892a	CLIP-seq
MIRT2510045	hsa-miR-1184	CLIP-seq
MIRT2510046	hsa-miR-1205	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1970950	hsa-miR-1285	CLIP-seq
MIRT2510047	hsa-miR-2052	CLIP-seq
MIRT913754	hsa-miR-2277-3p	CLIP-seq
MIRT1970956	hsa-miR-2355-5p	CLIP-seq
MIRT2510048	hsa-miR-3148	CLIP-seq
MIRT2510049	hsa-miR-3158-5p	CLIP-seq
MIRT1970957	hsa-miR-3187-5p	CLIP-seq
MIRT2510050	hsa-miR-3613-3p	CLIP-seq
MIRT2510051	hsa-miR-3918	CLIP-seq
MIRT2510052	hsa-miR-3940-3p	CLIP-seq
MIRT2510053	hsa-miR-4263	CLIP-seq
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT1970965	hsa-miR-4436a	CLIP-seq
MIRT2510054	hsa-miR-4496	CLIP-seq
MIRT913743	hsa-miR-4633-3p	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT2510055	hsa-miR-4685-5p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT1970970	hsa-miR-4715-3p	CLIP-seq
MIRT2510056	hsa-miR-4755-3p	CLIP-seq
MIRT2510057	hsa-miR-4799-5p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT2510058	hsa-miR-576-5p	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT2510059	hsa-miR-593	CLIP-seq
MIRT1970976	hsa-miR-612	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT1970982	hsa-miR-885-3p	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1970950	hsa-miR-1285	CLIP-seq
MIRT2510047	hsa-miR-2052	CLIP-seq
MIRT1970956	hsa-miR-2355-5p	CLIP-seq
MIRT2510048	hsa-miR-3148	CLIP-seq
MIRT1970957	hsa-miR-3187-5p	CLIP-seq
MIRT2510050	hsa-miR-3613-3p	CLIP-seq
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT1970965	hsa-miR-4436a	CLIP-seq
MIRT2510054	hsa-miR-4496	CLIP-seq
MIRT913743	hsa-miR-4633-3p	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT1970970	hsa-miR-4715-3p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT1970976	hsa-miR-612	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT1970982	hsa-miR-885-3p	CLIP-seq

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19162039, 21102443
GO:0001226	Function	RNA polymerase II transcription corepressor binding	IPI	29628311
GO:0003714	Function	Transcription corepressor activity	IDA	16287852, 19162039
GO:0005515	Function	Protein binding	IPI	11568182, 12052894, 15897867, 16287852, 16702210, 16762039, 17085477, 19486893, 19505873, 19751731, 20098713, 21044950, 21900206, 21903422, 21988832, 23707407, 24722188, 24981860, 25728771, 26496610, 28514442, 31515488
GO:0005634	Component	Nucleus	IDA	16702210
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006342	Process	Chromatin silencing	IMP	21102443
GO:0006468	Process	Protein phosphorylation	TAS	8440238
GO:0008022	Function	Protein C-terminus binding	TAS	8440238
GO:0008134	Function	Transcription factor binding	IPI	16609867
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	7479821
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0017053	Component	Transcription repressor complex	IDA	16287852, 19162039
GO:0017053	Component	Transcription repressor complex	ISS
GO:0019079	Process	Viral genome replication	TAS	7479821
GO:0019904	Function	Protein domain specific binding	IDA	19162039
GO:0019904	Function	Protein domain specific binding	IPI	18374649
GO:0031065	Process	Positive regulation of histone deacetylation	IMP	21102443
GO:0035067	Process	Negative regulation of histone acetylation	IMP	21102443
GO:0042802	Function	Identical protein binding	IPI	21988832, 24722188, 31515488
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0050872	Process	White fat cell differentiation	ISS
GO:0051287	Function	NAD binding	ISS
GO:0051726	Process	Regulation of cell cycle	IMP	21102443
GO:0070491	Function	Repressing transcription factor binding	IPI	19162039
GO:0090241	Process	Negative regulation of histone H4 acetylation	IMP	21102443

MIM	HGNC	e!Ensembl
602618	2494	ENSG00000159692

Protein

UniProt ID

Q13363

Protein name

C-terminal-binding protein 1 (CtBP1) (EC 1.1.1.-)

Protein function

Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT

PDB

1MX3 , 4LCE , 4U6Q , 4U6S , 6CDF , 6CDR , 6V89 , 6V8A , 7KWM , 8ARI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00389	2-Hacid_dh	30 → 352	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	Domain
PF02826	2-Hacid_dh_C	133 → 317	D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in germinal center B-cells. {ECO:0000269|PubMed:18212045}.

Sequence

MGSSHLLNKGLPLGVRPPIMNGPLHPRPLVALLDGRDCTVEMPILKDVATVAFCDAQSTQ
EIHEKVLNEAVGALMYHTITLTREDLEKFKALRIIVRIGSGFDNIDIKSAGDLGIAVCNV
PAASVEETADSTLCHILNLYRRATWLHQALREGTRVQSVEQIREVASGAARIRGETLGII
GLGRVGQAVALRAKAFGFNVLFYDPYLSDGVERALGLQRVSTLQDLLFHSDCVTLHCGLN
EHNHHLINDFTVKQMRQGAFLVNTARGGLVDEKALAQALKEGRIRGAALDVHESEPFSFS
QGPLKDAPNLICTPHAAWYSEQASIEMREEAAREIRRAITGRIPDSLKNCVNKDHLTAAT
HWASMDPAVVHPELNGAAYRYPPGVVGVAPTGIPAAVEGIVPSAMSLSHGLPPVAHPPHA
PSPGQTVKPEADRDHASDQL

Sequence length

440

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway Notch signaling pathway Pathways in cancer Chronic myeloid leukemia		Deactivation of the beta-catenin transactivating complex SUMOylation of transcription cofactors Repression of WNT target genes TCF7L2 mutants don't bind CTBP

Show/Hide Causal Diseases (16)

Disease term	Disease name	dbSNP ID	References
Causal
Axenfeld anomaly	Rieger eye malformation sequence	rs104893857, rs1560590094, rs104893858, rs1198152064, rs104893859, rs104893860, rs121909249, rs104893862, rs104893957, rs104893951, rs104893952, rs104893953, rs121909339, rs387906810, rs372857241 View all (33 more)
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800 View all (467 more)	17028196
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049 View all (1682 more)	17028196
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	26818947
Hemangioma	Hemangioma	rs121917766
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	rs869320802	31041561, 29291004, 27094857
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Wolf-hirschhorn syndrome	Wolf-Hirschhorn Syndrome	rs1560602800, rs1560635105, rs1560696317

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	31059077, 37240137
Alzheimer Disease	Associate	40302267
Ataxia	Associate	31041561, 36610307
Breast Neoplasms	Associate	20964627, 21681822, 30423315, 31534138
Carcinoma Hepatocellular	Associate	24440974, 31860631
Carcinoma Non Small Cell Lung	Associate	32910558
Carcinoma Pancreatic Ductal	Associate	18098271
Cell Transformation Neoplastic	Associate	23318885
Cerebral Ventricle Neoplasms	Associate	9788966
Colonic Neoplasms	Stimulate	20383323
Colorectal Neoplasms	Associate	20383323
Developmental Defects of Enamel	Associate	31041561, 34608870, 36610307
Developmental Disabilities	Associate	36610307
Diabetes Mellitus	Associate	32293505
Endometrial Neoplasms	Associate	29262396
Endometrial Neoplasms	Inhibit	32293505
Esophageal Squamous Cell Carcinoma	Associate	34586741
Fibrosis	Associate	24440974
Glioblastoma	Associate	31041561
Granulosa Cell Tumor	Associate	35656892
Growth Hormone Secreting Pituitary Adenoma	Associate	39294274
Hepatitis B	Associate	24440974
HIV Infections	Associate	26601824
Hypertrophy	Associate	32293505
Hypoxia	Associate	16840720
Intellectual Disability	Associate	31041561
Learning Disabilities	Associate	31041561
Lymphatic Metastasis	Stimulate	31059077, 35039872
Melanoma	Associate	19216735, 21278922, 23303449, 23318885, 31338875
Metabolic Syndrome	Associate	39294274
Muscle Hypotonia	Associate	31041561, 34608870, 36610307
Myopathies Structural Congenital	Associate	32910558
Neoplasm Metastasis	Associate	37240137
Neoplasms	Associate	12414815, 20818429, 20964627, 24440974, 32910558
Neoplasms	Inhibit	21278922, 23303449
Neoplasms Adipose Tissue	Associate	31903484
Osteosarcoma	Associate	30262996, 31337976
Ovarian Neoplasms	Associate	32332713, 34887384, 37633920
Ovarian Neoplasms	Inhibit	32711584
Pancreatic Neoplasms	Associate	35039872, 36397058
Pancreatitis	Associate	38273351
Polycystic Ovary Syndrome	Stimulate	25552498, 35656892, 39702404
Polycystic Ovary Syndrome	Associate	39294274
Prostatic Neoplasms	Associate	32059012
Pulmonary Edema	Associate	20869266
Scleroderma Systemic	Associate	29179949
Squamous Cell Carcinoma of Head and Neck	Associate	20818429, 35098409
Stomach Neoplasms	Associate	27983935

CTBP1 (C-terminal binding protein 1)