Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852772
rs137852772
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs137852772
rs137852772
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137852772
rs137852772
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. 9266371 1997
dbSNP: rs137852773
rs137852773
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852773
rs137852773
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 GeneticVariation UNIPROT Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. 9739053 1998
dbSNP: rs137852774
rs137852774
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852774
rs137852774
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 GeneticVariation UNIPROT Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. 9739053 1998
dbSNP: rs1057516326
rs1057516326
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 21103935 2011
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. 7738175 1995
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 22459206 2012
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. 7738175 1995
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 21549624 2011
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		T 0.700 GeneticVariation CLINVAR Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 21103935 2011
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 22459206 2012
dbSNP: rs1057516417
rs1057516417
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		T 0.700 GeneticVariation CLINVAR Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 21549624 2011
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		C 0.700 CausalMutation CLINVAR Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. 7738175 1995
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 21549624 2011
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 10352164 1999
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		C 0.700 CausalMutation CLINVAR Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 21549624 2011
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 22459206 2012
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		C 0.700 CausalMutation CLINVAR Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 21103935 2011
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 21103935 2011
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		C 0.700 GeneticVariation CLINVAR A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 10352164 1999
dbSNP: rs1057516460
rs1057516460
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		C 0.700 CausalMutation CLINVAR Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. 7738175 1995