Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554119274
rs1554119274
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
CUI: C4748167
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 		0.700 GeneticVariation UNIPROT A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. 29784083 2018