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: 5160
Gene Symbol: PDHA1
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.430 None 1.000 4 1 1989 2017
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.400 None 1.000 1 0 2009 2009
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.400 None 1.000 1 0 2007 2007
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.400 None 1.000 1 0 2006 2006
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.300 None 1.000 1 0 2015 2015
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 4541
Gene Symbol: ND6
ND6
NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.300 None 0 0
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.140 None 1.000 4 2 2016 2018
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
cytochrome b 0.529 0.808
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.140 None 1.000 4 0 1999 2010
Entrez Id: 54704
Gene Symbol: PDP1
PDP1
pyruvate dehyrogenase phosphatase catalytic subunit 1 0.691 0.462 0.45
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.130 None 1.000 3 0 2001 2005
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
mitochondrial tRNA translation optimization 1 0.670 0.462 7.4E-06
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.130 None 1.000 3 0 2012 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.130 None 1.000 3 0 2002 2009
Entrez Id: 4535
Gene Symbol: ND1
ND1
NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 1993 2006
Entrez Id: 5091
Gene Symbol: PC
PC
pyruvate carboxylase 0.515 0.808 1.4E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 1 1998 2002
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 2011 2016
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 2009 2010
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 2008 2012
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
ATP synthase F1 subunit epsilon 0.686 0.500 8.9E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 2007 2018
Entrez Id: 23479
Gene Symbol: ISCU
ISCU
iron-sulfur cluster assembly enzyme 0.695 0.423 4.1E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 2008 2012
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
required for meiotic nuclear division 1 homolog 0.674 0.462 1.1E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.120 None 1.000 2 0 2015 2017
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.110 None 1.000 2 1 2016 2017
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
iron-sulfur cluster assembly factor IBA57 0.666 0.423 8.4E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.110 None 1.000 1 0 2017 2017
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14
mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.110 None 1.000 1 0 2019 2019
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.110 None 1.000 1 2 2018 2018