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: 87178
Gene Symbol: PNPT1
PNPT1
polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C1824925
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 70
DEAFNESS, AUTOSOMAL RECESSIVE 70
disease 0.600 None 1.000 1 1 2012 2019