RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.600 GeneticVariation disease UNIPROT RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345 2017
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.600 GermlineCausalMutation disease ORPHANET RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345 2017
CUI: C4540321
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 		0.600 CausalMutation disease CLINVAR