Gene: PNPT1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.400 Biomarker phenotype 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 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.400 Biomarker phenotype HPO