CDK13, cyclin dependent kinase 13, 8621

N. diseases: 141; N. variants: 8
Disease: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.800 GeneticVariation UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
dbSNP: rs878853160
rs878853160
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C4479246
Disease:
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		G 0.800 CausalMutation CLINVAR