Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 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
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 26024122 2015
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 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
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 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
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 20583174 2010
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation BEFREE Whereas about 75% of LCHAD-deficient patients carry a G-to-C mutation at nucleotide position 1528 (Glu474Gln, E474Q) on both chromosomes, compound heterozygosity for E474Q on one chromosome and a second different LCHAD mutation on the other can be observed in up to 25% of LCHAD-deficiency cases; only very few patients carry two mutations different from E474Q. 17313315 2007
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. 15902556 2005
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation BEFREE Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. 15857179 2005
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation 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
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation BEFREE Three of the patients were homozygous for the 'common' 1528G>C mutation in the alpha-subunit of the MTP, giving rise to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 14605499 2003
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation BEFREE Evidence that a common mutation in the alpha-subunit (LCHAD) of trifunctional protein, E474Q, is always one of the mutant alleles in fetal isolated LCHAD deficiency associated with these disorders of pregnancy that cause high maternal, fetal, and newborn morbidity and mortality is reviewed. 10331463 1999
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. 10518281 1999
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation UNIPROT Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. 9266371 1997
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation BEFREE Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. 8938697 1996
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 8770876 1996
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation BEFREE Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 8770876 1996
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 GeneticVariation UNIPROT The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. 7846063 1995
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		G 0.890 CausalMutation CLINVAR 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: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C3711645
Disease:
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 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: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
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
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
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
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
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
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 20583174 2010
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.790 GeneticVariation BEFREE Whereas about 75% of LCHAD-deficient patients carry a G-to-C mutation at nucleotide position 1528 (Glu474Gln, E474Q) on both chromosomes, compound heterozygosity for E474Q on one chromosome and a second different LCHAD mutation on the other can be observed in up to 25% of LCHAD-deficiency cases; only very few patients carry two mutations different from E474Q. 17313315 2007
dbSNP: rs137852769
rs137852769
Entrez Id: 3030;150946
Gene Symbol: HADHA;GAREM2
HADHA;GAREM2
CUI: C1969443
Disease:
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		G 0.790 CausalMutation CLINVAR Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. 15902556 2005