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: 3030
Gene Symbol: HADHA
HADHA 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.569 0.769 4.4E-06
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		disease 0.800 definitive 1.000 3 0 1994 2019
Entrez Id: 3030
Gene Symbol: HADHA
HADHA 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.569 0.769 4.4E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.800 None 1.000 2 0 1994 2019
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: 3030
Gene Symbol: HADHA
HADHA 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.569 0.769 4.4E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype 0.300 strong 1.000 1 0 2016 2016