NUBPL, nucleotide binding protein like, 80224

N. diseases: 1; N. variants: 2
Source: UNIPROT ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515440
rs397515440
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C4748792
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.800 GeneticVariation UNIPROT NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
dbSNP: rs552722349
rs552722349
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C4748792
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.800 GeneticVariation UNIPROT NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477 2013
dbSNP: rs397515440
rs397515440
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C4748792
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
dbSNP: rs552722349
rs552722349
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C4748792
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010