rs1556913268, HUWE1

N. diseases: 6
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.851 0.240 X 53536600 missense variant T/A snv 0.700 0