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: 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: 3712
Gene Symbol: IVD
IVD
isovaleryl-CoA dehydrogenase 0.727 0.414 2.5E-14
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 4 0 2013 2016
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: 23417
Gene Symbol: MLYCD
MLYCD
malonyl-CoA decarboxylase 0.685 0.448 6.1E-04
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 3 0 1999 2004
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: 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: 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: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.594 0.586 1.4E-03
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 2 0 2001 2015
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: 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: 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: 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: 2109
Gene Symbol: ETFB
ETFB
electron transfer flavoprotein subunit beta 0.701 0.448 2.1E-02
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 1 0 2015 2015
Entrez Id: 33
Gene Symbol: ACADL
ACADL
acyl-CoA dehydrogenase long chain 0.727 0.276 2.4E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 1 0 1986 1986
Entrez Id: 6448
Gene Symbol: SGSH
SGSH
N-sulfoglucosamine sulfohydrolase 0.707 0.414 1.3E-04
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
solute carrier family 22 member 5 0.663 0.552 1.5E-15
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.400 strong 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.555 0.759 1.6E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
glycogen phosphorylase, muscle associated 0.707 0.414 1.5E-13
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
tafazzin 0.543 0.655 0.72
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5836
Gene Symbol: PYGL
PYGL
glycogen phosphorylase L 0.735 0.276 1.2E-16
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.627 0.448 5.1E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.510 0.655 1.8E-14
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.621 0.448 1.7E-11
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.633 0.552 4.8E-08
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
neuraminidase 1 0.533 0.621 3.6E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0