Source: CURATED

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 1 1 1989 2017
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: 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: 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