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.
Abnormal conjugate eye movement
CUI: C1845274
Disease: Abnormal conjugate eye movement
5 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Abnormal subcutaneous fat tissue distribution
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
2 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Abnormality of the cerebral ventricles
CUI: C4025724
Disease: Abnormality of the cerebral ventricles
5 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Cerebral white matter atrophy
CUI: C4022735
Disease: Cerebral white matter atrophy
11 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Cutis marmorata
CUI: C0263401
Disease: Cutis marmorata
9 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Delayed CNS myelination
CUI: C4021758
Disease: Delayed CNS myelination
4 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
13 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Exaggerated startle response
CUI: C1740801
Disease: Exaggerated startle response
4 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Hirsutism
CUI: C0019572
Disease: Hirsutism
17 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Horizontal Nystagmus
CUI: C0271385
Disease: Horizontal Nystagmus
11 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Infantile encephalopathy
CUI: C1856408
Disease: Infantile encephalopathy
9 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Intolerant of heat
CUI: C0231274
Disease: Intolerant of heat
7 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Inversion of nipple (disorder)
CUI: C0269269
Disease: Inversion of nipple (disorder)
7 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Late tooth eruption
CUI: C0239174
Disease: Late tooth eruption
4 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0