CTBP1, C-terminal binding protein 1, 1487

N. diseases: 154; N. variants: 4
Disease: Movement Disorders ×
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: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726 2017
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