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: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 GeneticVariation group BEFREE Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. 12794690 2003
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 GeneticVariation group BEFREE These results demonstrate that mutation in PEX10 is the genetic cause of complementation group B PBD. 9700193 1998
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 Biomarker group BEFREE Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 30640048 2019
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 GeneticVariation group BEFREE Mutations in PEX10 have been identified in patients from complementation group 7 (CG7) of the PBDs and we report here an analysis of the genotypes and phenotypes of PEX10-deficient patients. 10862081 2000
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 GeneticVariation group BEFREE Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. 28320181 2017
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 AlteredExpression group BEFREE We identified the human orthologue of yeast PEX10 and observed that its expression rescues peroxisomal matrix-protein import in PBD patients' fibroblasts from complementation group 7 (CG7). 9683594 1998
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.670 GeneticVariation group BEFREE Homozygous Pex10 mutant mouse embryos display biochemical abnormalities related to a PBD deficiency. 25176044 2014
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: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		0.520 GeneticVariation disease BEFREE A more mildly affected neonatal adrenoleukodystrophy patient was a compound heterozygote for a missense mutation in the PEX10 zinc-binding domain, H290Q, and for a nonsense mutation, R125ter. 9683594 1998
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		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: 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: C4721541
Disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) 		0.310 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: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation phenotype BEFREE Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 GeneticVariation phenotype BEFREE Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 30640048 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.130 Biomarker phenotype BEFREE Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 27230853 2016
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		0.110 GeneticVariation disease BEFREE In addition, we detected mutations on both copies of PEX10 in two unrelated CG7 patients. 9683594 1998
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 Biomarker phenotype BEFREE Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. 27230853 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE Mutations in PEX10 are a cause of autosomal recessive ataxia. 20695019 2010
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.030 GeneticVariation phenotype BEFREE Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders. 30640048 2019
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.020 GeneticVariation disease BEFREE A previous Chinese genome-wide single-nucleotide polymorphism (SNP) association studies have identified four SNPs (rs12097821 in PRMT6 gene, rs2477686 in PEX10 gene, rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene) as being significantly associated with risk factors for nonobstructive azoospermia (NOA). 30863997 2019
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive 		0.020 GeneticVariation disease BEFREE Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population. 24648396 2014
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.020 GeneticVariation disease BEFREE To better understand the role of the variants in conferring NOA risk, we selected four GWAS loci (HLA-DRA rs3129878, PRMT6 rs12097821, SOX5 rs10842262, and PEX10 rs2477686) that were reported before 2014 to investigate their association with NOA and their potential effects on sperm production in 1177 Han males from southwest China, including 545 patients with idiopathic NOA and 632 controls with normozoospermia. 25505198 2015
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.020 GeneticVariation disease BEFREE The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). 22197933 2011
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.010 GeneticVariation disease BEFREE Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 9700193 1998