Gene: CTBP1-AS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320802
rs869320802
CTBP1 ; CTBP1-AS
A 0.700 CausalMutation CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726

2017
dbSNP: rs869320802
rs869320802
CTBP1 ; CTBP1-AS
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
CTBP1 ; CTBP1-AS
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