Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency. 31521624

2019
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker BEFREE This study broadens the phenotype of MTPD and suggests that the genetic testing of patients suffering from IACMT should include the HADHB gene.. 29956646

2019
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency. 28112527

2017
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793

2015
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE Gene analysis demonstrated homozygous mutation in exon 13 of HADHB, the gene responsible for mitochondrial TFP deficiency. 25420603

2015
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE Other mutations in HADHA or HADHB often lead to significant reduction in all three enzymatic activities and result in trifunctional protein deficiency (TFPD). 22459206

2012
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 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
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. 22000755

2011
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE 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
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker CLINGEN Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. 19699128

2009
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation BEFREE Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency. 17143551

2007
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker CLINGEN ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit. 17116638

2006
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation UNIPROT Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706

2003
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 CausalMutation CLINVAR Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706

2003
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker CLINGEN Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. 12754706

2003
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GeneticVariation UNIPROT Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. 9259266

1997
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker CLINGEN Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. 8651282

1996
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 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
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker CTD_human

Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker GENOMICS_ENGLAND

Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker GENOMICS_ENGLAND

Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 GermlineCausalMutation ORPHANET

Entrez Id: 3032
Gene Symbol: HADHB
HADHB
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.780 Biomarker GENOMICS_ENGLAND