Source: ALL

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: 4576
Gene Symbol: TRNT
TRNT 		tRNA 0.729 0.538
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 1.000 4 1 1993 2018
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		NADH:ubiquinone oxidoreductase core subunit S2 0.601 0.654 1.4E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		lipoyltransferase 1 0.674 0.462 3.8E-08
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 54931
Gene Symbol: TRMT10C
TRMT10C 		tRNA methyltransferase 10C, mitochondrial RNase P subunit 0.839 0.154 9.7E-05
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 55005
Gene Symbol: RMND1
RMND1 		required for meiotic nuclear division 1 homolog 0.674 0.462 1.1E-09
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		FAD dependent oxidoreductase domain containing 1 0.633 0.462 2.0E-16
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B 		transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12 		NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 51300
Gene Symbol: TIMMDC1
TIMMDC1 		translocase of inner mitochondrial membrane domain containing 1 0.653 0.538 1.1E-08
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		NADH:ubiquinone oxidoreductase core subunit S3 0.581 0.769 5.8E-04
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		NADH:ubiquinone oxidoreductase core subunit V1 0.617 0.538 6.4E-11
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6 		NADH:ubiquinone oxidoreductase subunit S6 0.686 0.423 9.6E-02
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		NADH:ubiquinone oxidoreductase core subunit S8 0.636 0.538 0.17
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2 		NADH:ubiquinone oxidoreductase core subunit V2 0.610 0.500 5.6E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13 		NADH:ubiquinone oxidoreductase subunit A13 0.556 0.692 3.8E-06
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		translational activator of cytochrome c oxidase I 0.647 0.577 1.5E-03
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3 		solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 84334
Gene Symbol: COA8
COA8 		cytochrome c oxidase assembly factor 8 0.682 0.538 2.1E-04
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0