rs776857280, GALC

N. diseases: 2
Disease: Late-Onset Globoid Cell Leukodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Late-Onset Globoid Cell Leukodystrophy
CUI: C0268252
Disease: Late-Onset Globoid Cell Leukodystrophy
0.010 GeneticVariation BEFREE Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro. 28109651 2017