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: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.621 0.517 4.1E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
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: 3158
Gene Symbol: HMGCS2
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2 0.701 0.310 9.3E-14
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.493 0.724 2.6E-10
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: 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: 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: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.696 0.379 2.0E-12
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 35
Gene Symbol: ACADS
ACADS
acyl-CoA dehydrogenase short chain 0.762 0.276 2.0E-06
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
acyl-CoA dehydrogenase very long chain 0.735 0.345 8.0E-15
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
acyl-CoA synthetase family member 3 0.815 0.172 1.3E-26
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
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: 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: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.681 0.448 2.4E-24
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
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: 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: 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: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.547 0.724 1.3E-11
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.667 0.586 8.6E-09
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.627 0.724 5.2E-06
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 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: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.727 0.207 7.8E-06
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB
branched chain keto acid dehydrogenase E1 subunit beta 0.656 0.517 1.7E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
branched chain keto acid dehydrogenase E1, alpha polypeptide 0.690 0.276 2.8E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
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