Source: INFERRED

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 0.457 0.846 2.1E-09
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.500 None 0.957 1 6 2003 2020
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.180 None 0.875 0 5 1998 2019
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.170 None 1.000 1 7 2010 2017
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.150 None 1.000 2 1 2001 2019
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.150 None 1.000 1 2 2007 2019
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.150 None 0.833 1 5 2002 2020
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
solute carrier family 25 member 4 0.568 0.692 0.45
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.140 None 1.000 0 2 2000 2018
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
tyrosyl-tRNA synthetase 2 0.663 0.462 3.0E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.130 None 1.000 1 2 2014 2017
Entrez Id: 2671
Gene Symbol: GFER
GFER
growth factor, augmenter of liver regeneration 0.560 0.846 1.7E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.120 None 1.000 1 2 2009 2017
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.120 None 1.000 1 2 1999 2017
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
tRNA 0.608 0.577
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.120 None 1.000 0 1 2008 2016
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.120 None 1.000 0 2 2001 2017
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 0.729 0.538
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 4 1 1993 2018
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D
ATP synthase F1 subunit delta 0.674 0.500 7.4E-02
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 1 2018 2018
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 3 2017 2017
Entrez Id: 7156
Gene Symbol: TOP3A
TOP3A
DNA topoisomerase III alpha 0.656 0.615 5.1E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 2 2018 2018
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
required for meiotic nuclear division 1 homolog 0.674 0.462 1.1E-09
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 9 2016 2019
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B
transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 1 2016 2016
Entrez Id: 54931
Gene Symbol: TRMT10C
TRMT10C
tRNA methyltransferase 10C, mitochondrial RNase P subunit 0.839 0.154 9.7E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.110 None 1.000 1 2 2016 2016
Entrez Id: 5018
Gene Symbol: OXA1L
OXA1L
OXA1L mitochondrial inner membrane protein 0.590 0.731 1.9E-10
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.100 None 1.000 1 2 2018 2018
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6
NADH:ubiquinone oxidoreductase subunit A6 0.711 0.346 1.3E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.100 None 0 6
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2
tRNA 0.760 0.385
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.100 None 0 2
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.100 None 0 1
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
tRNA 0.647 0.692
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.100 None 0 2
Entrez Id: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.100 None 0 6