rs1554122526, CAMK2A

N. diseases: 9
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
0.800 GeneticVariation UNIPROT De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
0.800 GeneticVariation UNIPROT A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. 28130356 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
0.800 GeneticVariation UNIPROT De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
0.800 GeneticVariation UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
0.800 CausalMutation CLINVAR