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: 2539
Gene Symbol: G6PD
G6PD 		glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.400 strong 1.000 2 0 1990 2018
Entrez Id: 7167
Gene Symbol: TPI1
TPI1 		triosephosphate isomerase 1 0.517 0.846 3.0E-02
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.330 strong 0.800 2 0 1978 2008
Entrez Id: 2937
Gene Symbol: GSS
GSS 		glutathione synthetase 0.626 0.731 1.8E-06
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.310 strong 1.000 2 0 1996 2001
Entrez Id: 5313
Gene Symbol: PKLR
PKLR 		pyruvate kinase L/R 0.603 0.615 3.5E-07
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 2 0 1991 1996
Entrez Id: 9493
Gene Symbol: KIF23
KIF23 		kinesin family member 23 0.682 0.385 1.00
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 2 0 1981 2013
Entrez Id: 2729
Gene Symbol: GCLC
GCLC 		glutamate-cysteine ligase catalytic subunit 0.509 0.885 0.43
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 2 0 1996 1999
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA 		aldolase, fructose-bisphosphate A 0.631 0.615 1.3E-03
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 2 0 1981 1996
Entrez Id: 2936
Gene Symbol: GSR
GSR 		glutathione-disulfide reductase 0.494 0.846 1.3E-06
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 None 1.000 1 0 1995 1995
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 limited 0 0
Entrez Id: 2023
Gene Symbol: ENO1
ENO1 		enolase 1 0.481 0.885 1.9E-05
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 limited 0 0