Source: CLINGEN

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: 80704
Gene Symbol: SLC19A3
SLC19A3 		solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.340 definitive 1.000 10 0 2010 2017
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.420 moderate 1.000 6 0 2010 2019
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10 		NADH:ubiquinone oxidoreductase subunit A10 0.678 0.385 6.2E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.510 limited 1.000 5 0 2011 2017
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.510 limited 1.000 3 0 2011 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		phenylalanyl-tRNA synthetase 2, mitochondrial 0.615 0.731 9.3E-09
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 moderate 1.000 7 0 2012 2017
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		NADH:ubiquinone oxidoreductase subunit A9 0.653 0.385 4.8E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.500 moderate 1.000 5 0 2012 2018
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		isoleucyl-tRNA synthetase 2, mitochondrial 0.590 0.654 8.1E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.430 limited 1.000 4 0 2014 2018
Entrez Id: 100303755
Gene Symbol: PET117
PET117 		PET117 cytochrome c oxidase chaperone 0.769 0.154 3.2E-02
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.300 limited 1.000 3 0 2015 2017
Entrez Id: 79731
Gene Symbol: NARS2
NARS2 		asparaginyl-tRNA synthetase 2, mitochondrial 0.650 0.577 7.1E-08
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.310 limited 1.000 2 0 2015 2018
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2 		NADH:ubiquinone oxidoreductase core subunit V2 0.610 0.500 5.6E-03
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease 0.310 limited 1.000 2 0 2015 2016