Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.400 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.400 Biomarker GENOMICS_ENGLAND Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 23084291

2012

Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.400 Biomarker GENOMICS_ENGLAND