Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs879255565
rs879255565
NUBPL
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		GGTGCTGCCTT 0.700 CausalMutation CLINVAR

dbSNP: rs751631278
rs751631278
NUBPL
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR The molecular basis of human complex I deficiency. 21766414

2011
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. 10214753

1999
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477

2013
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation 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: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR The iron-sulphur protein Ind1 is required for effective complex I assembly. 18497740

2008
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. 10214753

1999
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The iron-sulphur protein Ind1 is required for effective complex I assembly. 18497740

2008
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477

2013
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The molecular basis of human complex I deficiency. 21766414

2011
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. 22072591

2012
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Minimum birth prevalence of mitochondrial respiratory chain disorders in children. 12805096

2003
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations. 22826544

2012
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 19336460

2009
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Complex I deficiency: clinical features, biochemistry and molecular genetics. 22972949

2012
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Complex I deficiency: clinical features, biochemistry and molecular genetics. 22972949

2012
dbSNP: rs397515440
rs397515440
NUBPL
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I. 19752196

2009