DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: NUBPL ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397515440

NUBPL

CUI:	C4748792
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21

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

NUBPL

CUI:	C4748792
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21

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

NUBPL

CUI:	C4748792
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21

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

NUBPL

CUI:	C4748792
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21

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