NUBPL, nucleotide binding protein like, 80224

N. diseases: 1; N. variants: 2
Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
0.600 GeneticVariation disease UNIPROT NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
0.600 GeneticVariation disease UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010