Gene: CTBP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		0.600 Biomarker disease GENOMICS_ENGLAND A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. 31041561 2019
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		0.600 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot. 29291004 2017
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		0.600 GeneticVariation disease UNIPROT A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. 27094857 2016
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1 		0.600 CausalMutation disease CLINVAR