Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 Biomarker GENOMICS_ENGLAND Increased nuchal translucency in a case of long-chain 3-hydroxyacyl- coenzyme A dehydrogenase deficiency. 11111210

2001
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 Biomarker GENOMICS_ENGLAND Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. 10518281

1999
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 Biomarker GENOMICS_ENGLAND Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. 7811722

1994
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 Biomarker GENOMICS_ENGLAND