Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
0.010 GeneticVariation disease BEFREE P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. 16966551 2006