Source: UNIPROT

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: 6834
Gene Symbol: SURF1
SURF1
SURF1, cytochrome c oxidase assembly factor 0.596 0.483 2.2E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.900 0.982 6 5 1998 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 0.590 0.586 2.8E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.900 1.000 3 1 2001 2017
Entrez Id: 1355
Gene Symbol: COX15
COX15
COX15, cytochrome c oxidase assembly homolog 0.630 0.448 2.5E-13
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.730 strong 1.000 2 2 1991 2017
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
NADH:ubiquinone oxidoreductase core subunit S8 0.636 0.379 7.4E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.630 1.000 1 2 1999 2014
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.550 0.621 2.1E-10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.520 0.500 3 2 1995 2015
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
NADH:ubiquinone oxidoreductase subunit A10 0.648 0.345 6.4E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.510 1.000 1 1 2011 2011
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
NADH:ubiquinone oxidoreductase subunit A9 0.659 0.345 2.3E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.500 1 1 2012 2012
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5 0.645 0.379 5.3E-10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.420 1.000 2 2 2010 2012
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.400 1.000 7 3 1992 2014
Entrez Id: 4537
Gene Symbol: ND3
ND3
NADH dehydrogenase, subunit 3 (complex I) 0.696 0.379
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.370 1.000 1 1 2004 2016
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.561 0.552
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.360 1.000 3 2 2002 2011
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.340 0.500 1 1 2000 2016
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
NADH:ubiquinone oxidoreductase core subunit V1 0.616 0.414 3.6E-11
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.320 1.000 1 1 1999 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.310 1.000 1 2 2009 2013
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
asparaginyl-tRNA synthetase 2, mitochondrial 0.681 0.483 8.1E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 0.310 1.000 1 0 2015 2015