DisGeNET - a database of gene-disease associations

HADHA, hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha, 3030

N. diseases: 154; N. variants: 58

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1456890163

Entrez Id:	3030;3032
Gene Symbol:	HADHA;HADHB

HADHA;HADHB

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

TGCCAATCGCCCGGCAGGCC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553311804

Entrez Id:	3030;150946
Gene Symbol:	HADHA;GAREM2

HADHA;GAREM2

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137852773

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs1057516326

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516417

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

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

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.700

GeneticVariation

CLINVAR

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

7738175

1995

dbSNP:

rs1057516417

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

22459206

2012

dbSNP:

rs1057516417

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

7738175

1995

dbSNP:

rs1057516417

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.700

GeneticVariation

CLINVAR

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

22459206

2012

dbSNP:

rs1057516417

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C1969443
Disease:

Trifunctional Protein Deficiency With Myopathy And Neuropathy

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:

rs1057516991

Entrez Id:	3030;150946
Gene Symbol:	HADHA;GAREM2

HADHA;GAREM2

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057517397

Entrez Id:	3030;150946
Gene Symbol:	HADHA;GAREM2

HADHA;GAREM2

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1237270916

Entrez Id:	3030;3032
Gene Symbol:	HADHA;HADHB

HADHA;HADHB

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

29268767

2017

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

9739053

1998

dbSNP:

rs137852774

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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:

rs142120825

Entrez Id:	3030;150946
Gene Symbol:	HADHA;GAREM2

HADHA;GAREM2

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1458898996

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

Next generation sequence analysis for mitochondrial disorders.

19852779

2009

dbSNP:

rs1553311647

Entrez Id:	3030;150946
Gene Symbol:	HADHA;GAREM2

HADHA;GAREM2

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553314070

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1553316176

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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:

rs1553316176

Entrez Id:	3030
Gene Symbol:	HADHA

HADHA

CUI:	C3711645
Disease:

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

0.700

GeneticVariation

CLINVAR

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

14630990

2004