rs118204438, GALNS

N. diseases: 3
Disease: Mucopolysaccharidoses ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucopolysaccharidoses
CUI: C0026703
Disease: Mucopolysaccharidoses
0.010 GeneticVariation BEFREE Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. 7668283 1995