CTBP1, C-terminal binding protein 1, 1487

N. diseases: 154; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. 27094857 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group 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