Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants. 31752325 2019
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 GeneticVariation disease CLINVAR Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. 27759031 2016
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. 25457163 2015
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 GeneticVariation disease CLINVAR 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 		0.700 GermlineCausalMutation disease ORPHANET 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 		0.700 Biomarker disease 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 		0.700 GeneticVariation disease UNIPROT 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 		0.700 CausalMutation disease CLINVAR
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		0.700 Biomarker disease CTD_human