PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. 18712838 2009
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		0.600 Biomarker disease CTD_human