Disease: Bifunctional peroxisomal enzyme deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. 25882080 2015
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype GENOMICS_ENGLAND Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype UNIPROT Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 9482850 1998
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group. 11330053 2000
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 23181892 2012
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype MGD Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice. 15769750 2005
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid. 10497229 1999
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype MGD Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. 10748062 2000
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype MGD Peroxisomal multifunctional protein 2 is essential for lipid homeostasis in Sertoli cells and male fertility in mice. 16484321 2006
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 CausalMutation phenotype CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 CausalMutation phenotype CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. 10748062 2000
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GermlineCausalMutation phenotype ORPHANET Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 9915948 1999
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 CausalMutation phenotype CLINVAR Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 9915948 1999
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia. 25967389 2015
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. 9482850 1998
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 27243974 2016
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype UNIPROT D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. 11743515 2001
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 CausalMutation phenotype CLINVAR Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. 23181892 2012
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. 23100014 2013
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 Biomarker phenotype GENOMICS_ENGLAND Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. 9915948 1999
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		0.900 GeneticVariation phenotype CLINVAR Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006