CTBP1, C-terminal binding protein 1, 1487

N. diseases: 154; N. variants: 4
Disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693578
Disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. 31041561 2019
CUI: C4693578
Disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		0.600 Biomarker disease GENOMICS_ENGLAND Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot. 29291004 2017
CUI: C4693578
Disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		0.600 GeneticVariation disease UNIPROT A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. 27094857 2016
CUI: C4693578
Disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		0.600 CausalMutation disease CLINVAR