HADH, hydroxyacyl-CoA dehydrogenase, 3033

N. diseases: 72; N. variants: 8
Disease: Hyperinsulinemic Hypoglycemia, Familial, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853103
rs137853103
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C1864948
Disease:
Hyperinsulinemic Hypoglycemia, Familial, 4 		0.800 GeneticVariation UNIPROT Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. 11489939 2001
dbSNP: rs137853103
rs137853103
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C1864948
Disease:
Hyperinsulinemic Hypoglycemia, Familial, 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs375717077
rs375717077
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C1864948
Disease:
Hyperinsulinemic Hypoglycemia, Familial, 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786200932
rs786200932
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C1864948
Disease:
Hyperinsulinemic Hypoglycemia, Familial, 4 		T 0.700 CausalMutation CLINVAR