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 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 A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
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 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 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 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 Biomarker disease CTD_human
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 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 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 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 Biomarker disease CTD_human
CUI: C3554000
Disease: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 GeneticVariation group BEFREE Mutations in PEX13 and other peroxin proteins are associated with Zellweger syndrome spectrum (ZSS) disorders, a subtype of peroxisome biogenesis disorder characterized by prominent neurological, hepatic, and renal abnormalities leading to neonatal death. 27827795 2017
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 Biomarker group CTD_human Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 Biomarker group CTD_human Taken together, these results provide strong evidence that mutations in PEX13 are responsible for disease in patient PBD222 and, by extension, in complementation group 13 of the PBDs. 10441568 1999
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 Biomarker group CTD_human We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p), rescues peroxisomal matrix protein import and its assembly in fibroblasts from PBD patients of complementation group H. In addition, we detected mutations on the human PEX13 cDNA in two patients of group H. A severe phenotype of a ZS patient (H-02) was homozygous for a nonsense mutation, W234ter, which results in the loss of not only the SH3 domain but also the putative transmembrane domain of Pex13p. 10332040 1999
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 GeneticVariation group BEFREE Taken together, these results provide strong evidence that mutations in PEX13 are responsible for disease in patient PBD222 and, by extension, in complementation group 13 of the PBDs. 10441568 1999
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 GeneticVariation group BEFREE Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 10332040 1999
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.540 AlteredExpression group BEFREE We examined the ability of PEX13 expression to rescue the peroxisomal protein import defects of fibroblast cells representing all known PBD complementation groups. 9878256 1998
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