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: rs201430951
rs201430951
NUBPL
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		C 0.700 CausalMutation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		C 0.700 CausalMutation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C0349588
Disease: Short stature
Short stature 		C 0.700 CausalMutation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		C 0.700 CausalMutation CLINVAR

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

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 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 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 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: 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: 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: rs73257280
rs73257280
NUBPL
CUI: C4280669
Disease: Velopharyngeal dysfunction
Velopharyngeal dysfunction 		0.700 GeneticVariation GWASCAT GWAS reveals loci associated with velopharyngeal dysfunction. 29855589

2018
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: 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: 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 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010