rs1556914274, HUWE1

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 GeneticVariation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 GeneticVariation CLINVAR
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
0.700 GeneticVariation CLINVAR
Abnormality of the genital system
CUI: C0744356
Disease: Abnormality of the genital system
0.700 GeneticVariation CLINVAR
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
0.700 GeneticVariation CLINVAR
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Blepharophimosis
CUI: C0005744
Disease: Blepharophimosis
0.700 GeneticVariation CLINVAR
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 GeneticVariation CLINVAR
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Mental Retardation, X-Linked, Syndromic, Turner Type
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
0.700 CausalMutation CLINVAR