Source: GENOMICS_ENGLAND

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: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.627 0.552 0.89
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.700 strong 1.000 1 0 1980 2018
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
carbamoyl-phosphate synthase 1 0.645 0.379 1.8E-09
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.700 strong 0.923 0 0 1993 2017
Entrez Id: 162417
Gene Symbol: NAGS
NAGS
N-acetylglutamate synthase 0.834 0.172 4.7E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.680 strong 1.000 0 0 2002 2015
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
glutamate dehydrogenase 1 0.636 0.552 7.3E-03
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.590 strong 1.000 2 0 1998 2016
Entrez Id: 445
Gene Symbol: ASS1
ASS1
argininosuccinate synthase 1 0.558 0.759 1.8E-09
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.450 strong 1.000 1 0 1990 2017
Entrez Id: 383
Gene Symbol: ARG1
ARG1
arginase 1 0.551 0.724 3.3E-04
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.440 strong 0.750 0 0 2013 2016
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15
solute carrier family 25 member 15 0.735 0.241 5.2E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.430 strong 1.000 0 0 1999 2004
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
solute carrier family 25 member 13 0.667 0.345 2.9E-21
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.420 strong 1.000 0 0 2006 2018
Entrez Id: 435
Gene Symbol: ASL
ASL
argininosuccinate lyase 0.690 0.345 3.8E-09
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.410 strong 1.000 2 0 1991 2003
Entrez Id: 763
Gene Symbol: CA5A
CA5A
carbonic anhydrase 5A 0.773 0.241 9.0E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.410 strong 1.000 1 0 2014 2014
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.785 0.207 2.4E-06
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.410 strong 1.000 0 0 2016 2016
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1
serine active site containing 1 0.672 0.379 2.2E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 7 0 2006 2018
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
transmembrane protein 70 0.656 0.586 1.7E-02
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 3 0 2011 2016
Entrez Id: 166785
Gene Symbol: MMAA
MMAA
methylmalonic aciduria (cobalamin deficiency) cblA type 0.720 0.379 1.3E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 2 0 2003 2005
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.727 0.345 2.6E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 limited 1 0 2007 2007
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
solute carrier family 25 member 20 0.619 0.586 1.1E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 326625
Gene Symbol: MMAB
MMAB
methylmalonic aciduria (cobalamin deficiency) cblB type 0.735 0.310 4.4E-03
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
propionyl-CoA carboxylase subunit beta 0.672 0.448 1.7E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2
ATP synthase mitochondrial F1 complex assembly factor 2 0.743 0.310 9.3E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 limited 0 0
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
solute carrier family 7 member 7 0.667 0.448 7.7E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.616 0.552 4.4E-06
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
methylcrotonoyl-CoA carboxylase 1 0.743 0.276 4.8E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 limited 0 0
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.685 0.448 1.8E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 limited 0 0
Entrez Id: 3141
Gene Symbol: HLCS
HLCS
holocarboxylase synthetase 0.681 0.345 2.0E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
carnitine palmitoyltransferase 2 0.596 0.483 5.1E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0