rs1554121875, CAMK2A

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
0.800 GeneticVariation UNIPROT De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
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
0.800 CausalMutation CLINVAR
Delayed speech and language development
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Urogenital Abnormalities
CUI: C0042063
Disease: Urogenital Abnormalities
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Abnormal emotion/affect behavior
CUI: C4020949
Disease: Abnormal emotion/affect behavior
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017