Disease: Peroxisomal Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.320 Biomarker group CTD_human Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. 16385454 2006
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.320 GeneticVariation group BEFREE In contrast to peroxisomes in normal cells, remnant peroxisomes in cultured skin fibroblasts from a subset of the clinically severe peroxisomal disorders that includes the biogenesis disorder Zellweger syndrome and the single-enzyme defect D-bifunctional protein (D-BP) deficiency, are enlarged and significantly less abundant. 16449325 2006
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.320 Biomarker group BEFREE The cDNA sequence for the human D-bifunctional protein (D-BP: 17 beta-hydroxysteroid dehydrogenase IV) was investigated in patients with peroxisomal disorders belonging to the BP complementation group (CG). 11330053 2000
CUI: C0282528
Disease: Peroxisomal Disorders
Peroxisomal Disorders 		0.320 Biomarker group CTD_human D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. 9345094 1997