Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309606
rs864309606
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4540481
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 GeneticVariation UNIPROT De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374 2018
dbSNP: rs864309606
rs864309606
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4540481
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 GeneticVariation UNIPROT De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
dbSNP: rs864309606
rs864309606
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4540481
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 GeneticVariation UNIPROT A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. 28130356 2017
dbSNP: rs864309606
rs864309606
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4540481
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.700 GeneticVariation UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015