PEX10, peroxisomal biogenesis factor 10, 5192

N. diseases: 141; N. variants: 27
Disease: Zellweger Spectrum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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 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 Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. 9700193 1998