Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C4225354
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.800 GeneticVariation UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C4225354
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		A 0.800 CausalMutation CLINVAR B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C4225354
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		0.800 GeneticVariation UNIPROT B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C4225354
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 		A 0.800 CausalMutation CLINVAR Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 25972378 2015