rs587776935, AKT3

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
CUI: C4014738
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
4 0.827 0.120 1 243505296 missense variant G/A snv 0.800 1.000 3 2012 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.120 1 243505296 missense variant G/A snv 0.700 1.000 8 1999 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.120 1 243505296 missense variant G/A snv 0.700 1.000 8 1999 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.827 0.120 1 243505296 missense variant G/A snv 0.700 0