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: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 1999 1999
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 3032
Gene Symbol: HADHB
HADHB 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta 0.619 0.692 1.5E-11
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 3030
Gene Symbol: HADHA
HADHA 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.569 0.769 4.4E-06
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 23417
Gene Symbol: MLYCD
MLYCD 		malonyl-CoA decarboxylase 0.617 0.769 6.5E-04
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 2003 2003
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH 		electron transfer flavoprotein dehydrogenase 0.678 0.462 2.8E-13
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 2109
Gene Symbol: ETFB
ETFB 		electron transfer flavoprotein subunit beta 0.711 0.538 1.7E-02
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 2108
Gene Symbol: ETFA
ETFA 		electron transfer flavoprotein subunit alpha 0.508 0.731 2.9E-03
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		solute carrier family 25 member 4 0.568 0.692 0.45
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 None 0 0
Entrez Id: 85366
Gene Symbol: MYLK2
MYLK2 		myosin light chain kinase 2 0.705 0.269 0.23
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype 0.300 None 0 0