Disease: GALACTOSIALIDOSIS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		0.010 GeneticVariation disease BEFREE These included a novel homozygous variant in the AARS2 gene (5/7) and two cases of galactosialidosis (2/7). 28822227 2018