Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514598
rs397514598
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		0.800 GeneticVariation UNIPROT Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 23084291 2012
dbSNP: rs397514598
rs397514598
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		C 0.800 CausalMutation CLINVAR
dbSNP: rs6739788
rs6739788
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs146571352
rs146571352
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs200088200
rs200088200
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		C 0.700 GeneticVariation CLINVAR Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. 27759031 2016
dbSNP: rs374698153
rs374698153
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		C 0.700 GeneticVariation CLINVAR Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. 27759031 2016
dbSNP: rs374698153
rs374698153
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs200088200
rs200088200
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		C 0.700 GeneticVariation CLINVAR Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 23084291 2012
dbSNP: rs374698153
rs374698153
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		C 0.700 GeneticVariation CLINVAR Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 23084291 2012
dbSNP: rs397514599
rs397514599
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C1824925
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 70 		0.700 GeneticVariation UNIPROT A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. 23084290 2012
dbSNP: rs1559094461
rs1559094461
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1559114055
rs1559114055
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		G 0.700 CausalMutation CLINVAR
dbSNP: rs746356243
rs746356243
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		T 0.700 CausalMutation CLINVAR
dbSNP: rs752550279
rs752550279
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		A 0.700 CausalMutation CLINVAR
dbSNP: rs778100619
rs778100619
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863225449
rs863225449
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255657
rs879255657
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3554129
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397514599
rs397514599
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE By positional cloning, we identified a homozygous PNPT1 missense mutation (c.1424A>G predicting the protein substitution p.Glu475Gly) of a highly conserved PNPase residue within the second RNase-PH domain in a family affected by autosomal-recessive nonsyndromic hearing impairment. 23084290 2012