Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation disease CLINVAR Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. 24726177 2014
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation disease CLINVAR GALNS mutations in Indian patients with mucopolysaccharidosis IVA. 25252036 2014
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation disease CLINVAR Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098 2005
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A
0.100 GeneticVariation disease CLINVAR Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. 9375852 1997