rs370717845, HGSNAT

N. diseases: 33
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.
Inappropriate sexual behavior
CUI: C0474420
Disease: Inappropriate sexual behavior
1 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Intellectual disability, progressive
CUI: C1846149
Disease: Intellectual disability, progressive
1 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Mood swings
CUI: C0085633
Disease: Mood swings
1 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Poor motor coordination
CUI: C1848453
Disease: Poor motor coordination
1 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Abnormal auditory evoked potential
CUI: C0522216
Disease: Abnormal auditory evoked potential
2 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Abnormal mitochondria in muscle tissue
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
2 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Interictal epileptiform activity
CUI: C4023491
Disease: Interictal epileptiform activity
2 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Absence of pain sensation
CUI: C0344307
Disease: Absence of pain sensation
3 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Hyperphagia
CUI: C0020505
Disease: Hyperphagia
3 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Facial diplegia
CUI: C1836003
Disease: Facial diplegia
4 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Restlessness
CUI: C3887611
Disease: Restlessness
4 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Social Communication Disorder
CUI: C0150080
Disease: Social Communication Disorder
4 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Abnormal visual evoked potential
CUI: C0522214
Disease: Abnormal visual evoked potential
5 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Social disinhibition
CUI: C0424296
Disease: Social disinhibition
5 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Apathy
CUI: C0085632
Disease: Apathy
9 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
MPS III C
CUI: C0086649
Disease: MPS III C
38 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0