Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. 28955726

2017
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 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