rs374698153, PNPT1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
CUI: C3554129
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
0.700 GeneticVariation CLINVAR Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. 27759031 2016
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
CUI: C3554129
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
CUI: C3554129
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
0.700 GeneticVariation CLINVAR Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. 23084291 2012