Source: GENOMICS_ENGLAND

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: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.400 None 1.000 2 0 2012 2016