Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515440
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
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: rs397515440
rs397515440
NUBPL
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		T 0.800 CausalMutation CLINVAR

dbSNP: rs552722349
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
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
dbSNP: rs552722349
rs552722349
NUBPL
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		C 0.800 CausalMutation CLINVAR

dbSNP: rs113235453
rs113235453
NUBPL
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495

2019
dbSNP: rs113235453
rs113235453
NUBPL
CUI: C0018810
Disease: heart rate
heart rate 		0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495

2019
dbSNP: rs113235453
rs113235453
NUBPL
CUI: C0018801
Disease: Heart failure
Heart failure 		0.700 GeneticVariation GWASCAT Genetics of heart rate in heart failure patients (GenHRate). 31113495

2019
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477

2013
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model. 23828044

2013
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. 22072591

2012
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Complex I deficiency: clinical features, biochemistry and molecular genetics. 22972949

2012
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. 22826544

2012
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR The molecular basis of human complex I deficiency. 21766414

2011
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 19336460

2009
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. 19752196

2009
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR The iron-sulphur protein Ind1 is required for effective complex I assembly. 18497740

2008
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Minimum birth prevalence of mitochondrial respiratory chain disorders in children. 12805096

2003
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 CausalMutation CLINVAR Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. 10214753

1999
dbSNP: rs118161496
rs118161496
NUBPL
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016