Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692