Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		disease 0.890 None 1.000 16 6 1997 2019
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		disease 0.850 None 1.000 2 2 1999 2019
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		disease 0.800 None 1.000 10 5 2006 2016