Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477

2013

Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010