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: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease 1.000 definitive 0.992 7 0 1967 2020
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.440 None 0.750 0 0 2010 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease 0.420 strong 1.000 1 0 2004 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group 0.400 strong 1.000 1 0 2004 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
disease 0.330 strong 1.000 1 0 2004 2015
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease 0.320 strong 1.000 1 0 2004 2014
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases
group 0.310 strong 1.000 1 0 2004 2008
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
Finding of Mean Corpuscular Hemoglobin
phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage
phenotype 0.300 strong 1.000 1 0 2004 2004
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
disease 0.300 strong 0 0
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
disease 0.300 strong 0 0
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 0 0
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C3889261
Disease: Other License Status
Other License Status
phenotype 0.300 strong 0 0