Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 45 0.628 0.577 6.3E-08 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		Q03164 lysine methyltransferase 2A 61 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.100 None 0 1