Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
0.100 CausalMutation group CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726 2017
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
0.100 CausalMutation group CLINVAR A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. 27094857 2016
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
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