DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy ×

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:

rs121913131

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

12754706

2003

dbSNP:

rs121913131

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

9259266

1997

dbSNP:

rs121913131

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

8651282

1996

dbSNP:

rs121913131

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913132

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

12754706

2003

dbSNP:

rs121913132

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

9259266

1997

dbSNP:

rs121913132

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

8651282

1996

dbSNP:

rs121913132

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913133

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

12754706

2003

dbSNP:

rs121913133

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

9259266

1997

dbSNP:

rs121913133

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

8651282

1996

dbSNP:

rs121913133

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913134

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

12754706

2003

dbSNP:

rs121913134

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

9259266

1997

dbSNP:

rs121913134

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.

8651282

1996

dbSNP:

rs121913134

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852773

HADHA

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

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:

rs137852773

HADHA

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852774

HADHA

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

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

HADHA

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

CausalMutation

CLINVAR

dbSNP:

rs891954464

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

UNIPROT

dbSNP:

rs891954464

HADHB

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.800

GeneticVariation

CLINVAR

dbSNP:

rs137852769

HADHA ; GAREM2

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.790

GeneticVariation

BEFREE

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.

29095929

2017

dbSNP:

rs137852769

HADHA ; GAREM2

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.790

GeneticVariation

BEFREE

A common mutation in HADHA, c.1528G>C, leads to a single amino acid substitution, p. Glu474Gln, and impairs primarily long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity leading to LCHAD deficiency (LCHADD).

22459206

2012

dbSNP:

rs137852769

HADHA ; GAREM2

CUI:	C1969443
Disease:	Trifunctional Protein Deficiency With Myopathy And Neuropathy

Trifunctional Protein Deficiency With Myopathy And Neuropathy

0.790

GeneticVariation

BEFREE

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

20814823

2010