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: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.457 0.828 7.6E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 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: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.521 0.724 5.6E-06
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
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.536 0.690 2.8E-05
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 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: 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: 26503
Gene Symbol: SLC17A5
SLC17A5
solute carrier family 17 member 5 0.547 0.759 8.4E-10
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: 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: 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: 3425
Gene Symbol: IDUA
IDUA
iduronidase, alpha-L- 0.558 0.724 7.1E-10
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 1738
Gene Symbol: DLD
DLD
dihydrolipoamide dehydrogenase 0.572 0.621 8.6E-03
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
cytochrome P450 family 27 subfamily A member 1 0.582 0.655 2.4E-19
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.588 0.621 1.00
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: 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
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.607 0.655 1.9E-17
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
NPC intracellular cholesterol transporter 2 0.607 0.655 1.9E-03
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
lipase A, lysosomal acid type 0.609 0.448 3.9E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.611 0.586 5.5E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
electron transfer flavoprotein subunit alpha 0.611 0.655 3.4E-03
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 strong 0 0
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3, battenin 0.614 0.586 1.1E-07
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype 0.300 limited 0 0