Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2004