Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434613
rs121434613
PAK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation BEFREE These mutations include two "severe" G424R and K389N variants (responsible for severe ID and CCA) and the "mild" A365E variant (responsible for nonsyndromic mild ID). 31843706

2020
dbSNP: rs121434613
rs121434613
PAK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation BEFREE X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 12884430

2003