rs1554402092, CAMK2B

N. diseases: 8
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
0.800 GeneticVariation UNIPROT De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. 29560374 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
0.800 GeneticVariation UNIPROT De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
0.800 CausalMutation CLINVAR