PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 26319495 2015
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081 2000
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 9700193 1998
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease CTD_human Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 26319495 2015
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease CTD_human All four PEX10-deficient Zellweger Syndrome (ZS) patients were found to have nonsense, frameshift, or splice site mutations that remove large portions of the PEX10 coding region. 10862081 2000
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease CTD_human Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 9700193 1998
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 GeneticVariation disease BEFREE Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). 28320181 2017
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease BEFREE All four PEX10-deficient Zellweger Syndrome (ZS) patients were found to have nonsense, frameshift, or splice site mutations that remove large portions of the PEX10 coding region. 10862081 2000
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease CTD_human A Zellweger syndrome patient, PBD100, was homozygous for a splice donor-site mutation that results in exon skipping and loss of 407 bp from the PEX10 open reading frame. 9683594 1998
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease CTD_human Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders. 9683594 1998
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease CTD_human Primary skin fibroblasts from seven PBD-ZSD patients with biallelic PEX1, PEX10, PEX12, or PEX26 mutations and three healthy donors were transduced with retroviral vectors expressing Yamanaka reprogramming factors. 26319495 2015
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease CTD_human Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. 10862081 2000
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease CTD_human Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 9700193 1998
CUI: C3658299
Disease: Zellweger Spectrum
Zellweger Spectrum 		0.310 Biomarker disease BEFREE PBDs include Zellweger spectrum disorders (ZSDs) with a relatively mild clinical phenotype caused by PEX1, (MIM# 602136), PEX2 (MIM# 170993), PEX6 (MIM# 601498), PEX10 (MIM# 602859), PEX12 (MIM# 601758), and PEX16 (MIM# 603360) mutations. 27230853 2016
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		0.100 Biomarker phenotype HPO
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		0.100 Biomarker phenotype HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		0.100 Biomarker phenotype HPO
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		0.100 Biomarker phenotype HPO