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: 2588
Gene Symbol: GALNS
GALNS 		galactosamine (N-acetyl)-6-sulfatase 0.560 0.808 3.0E-10
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		disease 0.900 None 1.000 13 7 1980 2016
Entrez Id: 2588
Gene Symbol: GALNS
GALNS 		galactosamine (N-acetyl)-6-sulfatase 0.560 0.808 3.0E-10
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		disease 0.800 None 1.000 28 37 1988 2019
Entrez Id: 2588
Gene Symbol: GALNS
GALNS 		galactosamine (N-acetyl)-6-sulfatase 0.560 0.808 3.0E-10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 14 1 1995 2017
Entrez Id: 2588
Gene Symbol: GALNS
GALNS 		galactosamine (N-acetyl)-6-sulfatase 0.560 0.808 3.0E-10
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 14 3 1995 2017