Source: ORPHANET

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: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0086649
Disease: MPS III C
MPS III C 		disease 0.800 None 1.000 1 0 2006 2019
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.420 None 1.000 1 0 2015 2017