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: 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: 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 CTD_human Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
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: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.310 Biomarker disease BEFREE Here we used mice with brain-restricted inactivation of the peroxisome biogenesis gene PEX13 to model the pathophysiological features of ZS, and determine the impact of peroxisome dysfunction on neurogenesis and cell maturation in ZS. 29187321 2018
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.310 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
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.300 Biomarker disease CTD_human PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 10441568 1999
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 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: C1527231
Disease: Adrenomyeloneuropathy
Adrenomyeloneuropathy 		0.300 Biomarker disease CTD_human PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 10441568 1999
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.300 GermlineCausalMutation disease ORPHANET
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 GeneticVariation disease BEFREE Twelve iris specimens, 12 anterior capsule specimens, and respective blood samples were obtained from 17 patients with PEX (13 men), who were undergoing glaucoma and cataract surgery. 10235561 1999
CUI: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease BEFREE Twelve iris specimens, 12 anterior capsule specimens, and respective blood samples were obtained from 17 patients with PEX (13 men), who were undergoing glaucoma and cataract surgery. 10235561 1999
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease HPO
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO