PEX13, peroxisomal biogenesis factor 13, 5194

N. diseases: 132; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 GeneticVariation disease UNIPROT Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 10332040 1999
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease CTD_human
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. 23716570 2013
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 GeneticVariation disease UNIPROT PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 10441568 1999
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 CausalMutation disease CLINVAR
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease CTD_human
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. 23716570 2013
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.510 GermlineCausalMutation disease ORPHANET
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.510 GeneticVariation disease BEFREE Our previous study of a NALD patient with a marked deterioration by a fever revealed a mutation (Ile326Thr) within a SH3 domain of PEX13 protein (Pex13p), showing a temperature-sensitive (TS) phenotype in peroxisomal biogenesis. 16006427 2005
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.330 Biomarker disease BEFREE Together, our results demonstrate that PEX13 is required for selective autophagy, and suggest that dysregulation of PEX13-mediated mitophagy may contribute to ZSS pathogenesis. 27827795 2017
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.330 GeneticVariation disease BEFREE Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. 23716570 2013
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.330 Biomarker disease BEFREE Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. 17041890 2006
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.330 Biomarker disease CTD_human Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 10332040 1999
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.330 Biomarker disease CTD_human Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.310 Biomarker disease CTD_human Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 10332040 1999