rs1057518843, GALC

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 GeneticVariation CLINVAR
Dysmyelinating leukodystrophy
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
0.700 GeneticVariation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
0.700 GeneticVariation CLINVAR
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
0.700 GeneticVariation CLINVAR
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
0.700 GeneticVariation CLINVAR
Hemiparesis
CUI: C0018989
Disease: Hemiparesis
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
0.700 GeneticVariation CLINVAR
EMG: axonal abnormality
CUI: C4025609
Disease: EMG: axonal abnormality
0.700 GeneticVariation CLINVAR
Amblyopia
CUI: C0002418
Disease: Amblyopia
0.700 GeneticVariation CLINVAR
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
0.700 GeneticVariation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 GeneticVariation CLINVAR
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
0.700 GeneticVariation CLINVAR
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
0.700 GeneticVariation CLINVAR
Strabismus
CUI: C0038379
Disease: Strabismus
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Small for gestational age (disorder)
0.700 GeneticVariation CLINVAR
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
0.700 GeneticVariation CLINVAR