rs28940894, ARSA

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukodystrophy, Metachromatic
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
0.700 CausalMutation CLINVAR Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation. 12035837 2002
Leukodystrophy, Metachromatic
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
0.700 CausalMutation CLINVAR Adult-onset MLD: a gene mutation with isolated polyneuropathy. 11061266 2000
Metachromatic Leukodystrophy, Adult-Type (disorder)
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
0.700 CausalMutation CLINVAR