Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.910 None 1.000 4 0 1998 2016
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
NADH:ubiquinone oxidoreductase subunit S6 0.686 0.423 9.6E-02
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.710 None 1.000 2 0 2004 2016
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
NADH:ubiquinone oxidoreductase subunit A1 0.636 0.423 0.55
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.700 None 1.000 5 0 2007 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1 0.617 0.538 6.4E-11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.640 None 1.000 3 0 1999 2018
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
NADH:ubiquinone oxidoreductase core subunit S1 0.595 0.692 6.6E-11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.620 None 1.000 3 0 2001 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
nucleotide binding protein like 0.670 0.423 1.1E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.610 None 1.000 2 0 2010 2016
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.610 None 1.000 2 0 2004 2016
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.600 strong 1.000 3 0 1998 2016
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5 0.674 0.462 3.1E-10
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.600 strong 1.000 3 0 2008 2019
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
NADH:ubiquinone oxidoreductase complex assembly factor 2 0.641 0.577 2.1E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.600 None 1.000 3 0 2005 2016
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.600 None 1.000 2 0 2009 2016
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
NADH:ubiquinone oxidoreductase subunit B3 0.705 0.538 1.6E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.600 strong 1.000 1 0 2012 2016
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 None 1.000 2 0 2009 2016
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11
NADH:ubiquinone oxidoreductase subunit A11 0.705 0.308 1.8E-02
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 None 1.000 2 0 2008 2016
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
NADH:ubiquinone oxidoreductase core subunit V2 0.610 0.500 5.6E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 strong 1.000 1 0 2003 2016
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
NADH:ubiquinone oxidoreductase complex assembly factor 4 0.686 0.385 0.55
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 strong 1.000 1 0 2008 2016
Entrez Id: 4715
Gene Symbol: NDUFB9
NDUFB9
NADH:ubiquinone oxidoreductase subunit B9 0.700 0.385 1.6E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 moderate 1.000 1 0 2012 2012
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 strong 1.000 1 0 2007 2016
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
NADH:ubiquinone oxidoreductase core subunit S8 0.636 0.538 0.17
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 strong 1.000 0 0 2012 2012
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
NADH:ubiquinone oxidoreductase core subunit S7 0.579 0.769 0.91
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.500 strong 1.000 0 0 2012 2012
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8
NADH:ubiquinone oxidoreductase subunit B8 0.638 0.654 7.5E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.310 moderate 1.000 1 0 2018 2018
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
disease 0.300 strong 1.000 1 0 2016 2016