rs776857280, GALC

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Globoid cell leukodystrophy
CUI: C0023521
Disease: Globoid cell leukodystrophy
0.010 GeneticVariation BEFREE The high clinical suspicion combined with the morphologic evidence for KD predict that the p.Ala543Pro variant is pathogenic for (late onset) KD. 28109651 2017
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