rs1556914274, HUWE1

N. diseases: 13
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.
Abnormality of the genital system
CUI: C0744356
Disease: Abnormality of the genital system
4 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
15 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
25 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0