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: 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: 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: 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: 4151
Gene Symbol: MB
MB
myoglobin 0.556 0.731 3.1E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.020 None 0.500 2 0 2018 2019
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: 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: 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: 3309
Gene Symbol: HSPA5
HSPA5
heat shock protein family A (Hsp70) member 5 0.434 0.885 0.77
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.020 None 0.500 2 0 2012 2016
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: 7019
Gene Symbol: TFAM
TFAM
transcription factor A, mitochondrial 0.529 0.731 0.17
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.020 None 1.000 2 0 2006 2019
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: 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: 10628
Gene Symbol: TXNIP
TXNIP
thioredoxin interacting protein 0.490 0.731 0.16
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.020 None 1.000 2 0 2010 2019
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.010 None 1.000 1 0 2015 2015
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: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4538
Gene Symbol: ND4
ND4
NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.110 None 1.000 1 0 1993 1993
Entrez Id: 55244
Gene Symbol: SLC47A1
SLC47A1
solute carrier family 47 member 1 0.729 0.462 2.0E-14
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.010 None 1.000 1 0 2012 2012
Entrez Id: 468
Gene Symbol: ATF4
ATF4
activating transcription factor 4 0.507 0.769 1.6E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.010 None 1.000 1 0 2012 2012
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: 27089
Gene Symbol: UQCRQ
UQCRQ
ubiquinol-cytochrome c reductase complex III subunit VII 0.722 0.308 4.8E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.010 None 1.000 1 0 2003 2003
Entrez Id: 6427
Gene Symbol: SRSF2
SRSF2
serine and arginine rich splicing factor 2 0.561 0.731 0.48
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.010 None 1.000 1 0 2005 2005
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