Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease BEFREE Significant differences were identified in complex I gene mRNA levels between the BD group (n = 32) and the control group (n = 35) for the following genes: NDUFV1 (P = 0.01), NDUFV2 (P < 0.01), and NDUFS1 (P = 0.02). 26093828 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease PSYGENET NADH dehydrogenase ubiquinone flavoprotein 2 (NDUFV2), encoding a subunit of mitochondrial complex I, is a candidate gene for several neuronal diseases; schizophrenia, bipolar disorder and Parkinson disease (PD). 20971673 2010
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease PSYGENET The NADH-ubiquinone oxidoreductase flavoprotein gene (NDUFV2), which encodes a 24 kD mitochondrial complex I subunit, has been reported to be positively associated with schizophrenia and bipolar disorder in different populations. 21190551 2010
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease BEFREE The NADH-ubiquinone oxidoreductase flavoprotein gene (NDUFV2), which encodes a 24 kD mitochondrial complex I subunit, has been reported to be positively associated with schizophrenia and bipolar disorder in different populations. 21190551 2010
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease BEFREE Our study presented the further evidence of biological significance of NDUFV2 in BD and SZ. 19135101 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease BEFREE Previous studies have reported the association of NDUFV2 with bipolar disorder in the Japanese and Caucasian populations. 19194776 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease CTD_human Our study presented the further evidence of biological significance of NDUFV2 in BD and SZ. 19135101 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease PSYGENET To study the role of NDUFV2 in bipolar disorder in the Chinese population, 506 unrelated bipolar patients and 507 unrelated controls of Chinese Han origin were recruited. 19194776 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease PSYGENET Our study presented the further evidence of biological significance of NDUFV2 in BD and SZ. 19135101 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease LHGDN While genetic variants of NDUFV2 may increase risk for BD, the role of its altered expression and the link to intracellular Ca(2+) abnormalities in BD remains equivocal. 18199248 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 Biomarker disease PSYGENET mRNA and protein levels of complex I subunits NDUFV1, NDUFV2 and NADUFS1, were assessed in striatal and lateral cerebellar hemisphere postmortem specimens and analyzed together with our previous data from prefrontal and parieto-occipital cortices specimens of patients with schizophrenia, bipolar disorder, major depression and healthy subjects. 18989376 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease BEFREE While genetic variants of NDUFV2 may increase risk for BD, the role of its altered expression and the link to intracellular Ca(2+) abnormalities in BD remains equivocal. 18199248 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease BEFREE We previously reported that single nucleotide polymorphisms (SNPs) in the upstream region of NDUFV2 were associated with bipolar disorder in Japanese. 16508936 2006
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 AlteredExpression disease BEFREE However, it was unclear whether only the NDUFV2 gene exhibited the decreased expression level in bipolar disorder. 15762855 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease LHGDN We previously reported that a polymorphism in the upstream region of NDUFV2, -602G> A, was associated with bipolar disorder in Japanese subjects; however, functional significance of -602G> A was not known. 15450783 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease BEFREE We previously reported that a polymorphism in the upstream region of NDUFV2, -602G> A, was associated with bipolar disorder in Japanese subjects; however, functional significance of -602G> A was not known. 15450783 2004
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease BEFREE Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder. 12815743 2003
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.590 GeneticVariation disease LHGDN Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder. 12815743 2003
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.500 GermlineCausalMutation disease ORPHANET Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 26008862 2015
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.500 GermlineCausalMutation disease ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.500 GermlineCausalMutation disease ORPHANET Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. 12754703 2003
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
0.400 CausalMutation disease CLINVAR
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.390 Biomarker disease BEFREE NDUFV2 pseudogene (NDUFV2P1) contributes to mitochondrial complex I deficits in schizophrenia. 30531937 2018