rs377274761, GALC

N. diseases: 20
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.
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
111 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 1.000 4 1996 2016
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Dysmyelinating leukodystrophy
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
2 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
EMG: axonal abnormality
CUI: C4025609
Disease: EMG: axonal abnormality
4 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Hemiparesis
CUI: C0018989
Disease: Hemiparesis
6 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0