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: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.700 strong 0.943 0 0 1993 2018
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
mitochondrial genome maintenance exonuclease 1 0.735 0.345 1.7E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.520 strong 1.000 0 0 2013 2015
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
FAD dependent oxidoreductase domain containing 1 0.616 0.448 5.1E-14
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.510 strong 1.000 0 0 2010 2011
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
nucleotide binding protein like 0.648 0.414 1.0E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.510 strong 1.000 0 0 2010 2014
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
SCO1, cytochrome c oxidase assembly protein 0.645 0.621 2.3E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.510 strong 1.000 0 0 2007 2011
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 0.639 0.345 0.53
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.500 limited 0 0
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
MPV17, mitochondrial inner membrane protein 0.611 0.483 1.2E-10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.500 strong 0 0 2009 2009
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.567 0.517
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.450 strong 1.000 0 0 2010 2017
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.554 0.655 2.8E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.440 strong 1.000 0 0 2007 2017
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1, mitochondrial dynamin like GTPase 0.555 0.621 1.00
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.430 strong 1.000 0 0 2002 2017
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
solute carrier family 25 member 4 0.627 0.552 0.49
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.420 strong 1.000 0 0 2000 2017
Entrez Id: 2671
Gene Symbol: GFER
GFER
growth factor, augmenter of liver regeneration 0.619 0.655 2.1E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.410 strong 1.000 2 0 2009 2017
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.690 0.379 4.8E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.410 strong 1.000 0 0 2015 2017
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7, paraplegin matrix AAA peptidase subunit 0.542 0.655 3.3E-35
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.410 strong 1.000 0 0 1999 2017
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
transmembrane protein 126B 0.676 0.379 1.2E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.400 strong 1 0 2017 2017
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
G elongation factor mitochondrial 2 4.2E-19
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.400 strong 0 0 2017 2017
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
required for meiotic nuclear division 1 homolog 0.696 0.345 4.2E-10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.400 strong 0 0 2016 2016
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.350 strong 1.000 0 0 1997 2012
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.350 strong 1.000 0 0 2000 2014
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
thymidine phosphorylase 0.513 0.655 7.2E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.340 strong 1.000 0 0 1999 2015
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
cytochrome c oxidase subunit 8A 0.461 0.793 0.11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 strong 1.000 1 0 1997 2016
Entrez Id: 9377
Gene Symbol: COX5A
COX5A
cytochrome c oxidase subunit 5A 0.580 0.655 0.51
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 limited 1.000 0 0 1997 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1, cytochrome c oxidase assembly factor 0.596 0.483 2.2E-13
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.330 strong 1.000 0 0 1999 2013
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5 0.645 0.379 5.3E-10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.320 strong 1.000 2 0 2008 2013
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3 0.656 0.448 6.2E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.320 strong 1.000 0 0 2009 2017