CTBP1, C-terminal binding protein 1, 1487

N. diseases: 154; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C4693578
Disease:
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C4693578
Disease:
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs72501962
rs72501962
Entrez Id: 1487;92070
Gene Symbol: CTBP1;CTBP1-DT
CTBP1;CTBP1-DT
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.700 GeneticVariation GWASCAT Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. 31118516 2019
dbSNP: rs79407053
rs79407053
Entrez Id: 1487;92070
Gene Symbol: CTBP1;CTBP1-DT
CTBP1;CTBP1-DT
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		G 0.700 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726 2017
dbSNP: rs73069940
rs73069940
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		C 0.700 GeneticVariation GWASCAT Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. 26818947 2016
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. 27094857 2016
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Molecular cloning and characterization of a cellular phosphoprotein that interacts with a conserved C-terminal domain of adenovirus E1A involved in negative modulation of oncogenic transformation. 7479821 1995