HADH, hydroxyacyl-CoA dehydrogenase, 3033

N. diseases: 72; N. variants: 8
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: rs137853101
rs137853101
Entrez Id: 3033;107986298
Gene Symbol: HADH;LOC107986298
HADH;LOC107986298
CUI: C1291230
Disease:
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs137853102
rs137853102
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C1291230
Disease:
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs146036912
rs146036912
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C0020615
Disease:
Hypoglycemia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs146036912
rs146036912
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C1291230
Disease:
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs146732064
rs146732064
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C4021085
Disease:
Abnormality of brain morphology 		T 0.700 GeneticVariation 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
dbSNP: rs221330
rs221330
Entrez Id: 3033
Gene Symbol: HADH
HADH
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE A common haplotype (at markers rs7442180 and rs221330) positioned approximately 873 kb away from D4S3240 was associated with HCC, with P=0.0074. 16407824 2006