rs752914124, SGSH

N. diseases: 8
Disease: Mucopolysaccharidosis Type IIIA ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
0.700 GeneticVariation CLINVAR A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. 26787381 2016
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
0.700 GeneticVariation CLINVAR [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]. 19099774 2008
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
0.700 CausalMutation CLINVAR Novel mutations in Sanfilippo A syndrome: implications for enzyme function. 9285796 1997
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
0.700 GeneticVariation CLINVAR Molecular defects in Sanfilippo syndrome type A. 9158154 1997
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
0.700 GeneticVariation CLINVAR Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. 7493035 1995