Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
CUI: C4015643
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 		0.700 GeneticVariation UNIPROT Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). 25385316

2015
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
CUI: C4015643
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 		0.700 GeneticVariation UNIPROT Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. 25807530

2015
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
CUI: C4015643
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 		0.700 GeneticVariation UNIPROT Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. 25629079

2015