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: 6834
Gene Symbol: SURF1
SURF1 		SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 9 0 1998 2018
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		NADH:ubiquinone oxidoreductase subunit A2 0.617 0.577 0.77
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 9 0 1998 2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		NADH:ubiquinone oxidoreductase core subunit S8 0.636 0.538 0.17
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 9 0 1998 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		tetratricopeptide repeat domain 19 0.663 0.385 1.4E-08
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 8 0 2011 2018
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9 		NADH:ubiquinone oxidoreductase subunit A9 0.653 0.385 4.8E-03
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 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: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 4 0 2014 2018
Entrez Id: 79731
Gene Symbol: NARS2
NARS2 		asparaginyl-tRNA synthetase 2, mitochondrial 0.650 0.577 7.1E-08
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 2 0 2015 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		NADH:ubiquinone oxidoreductase core subunit V1 0.617 0.538 6.4E-11
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 definitive 1.000 10 0 2001 2019
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		NADH:ubiquinone oxidoreductase core subunit S7 0.579 0.769 0.91
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 7 0 1999 2019
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 moderate 1.000 6 0 2010 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		pentatricopeptide repeat domain 3 0.769 0.192 2.5E-22
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		disease 0.300 limited 1.000 3 0 2009 2019