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
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C4693578
Disease:
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs869320802
rs869320802
Entrez Id: 1487;285463
Gene Symbol: CTBP1;CTBP1-AS
CTBP1;CTBP1-AS
CUI: C4693578
Disease:
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 		0.800 GeneticVariation UNIPROT