Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.050 GeneticVariation BEFREE Zellweger spectrum disorder (ZSD) results from biallelic mutations in PEX genes required for peroxisome biogenesis. 30362618

2019
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.050 GeneticVariation BEFREE We obtained variants from ExAC in 13 PEX genes associated with ZSD. 30846882

2019
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.050 GeneticVariation BEFREE Zellweger spectrum disorder (PBD-ZSD) is a disease continuum caused by mutations in a subset of PEX genes required for normal peroxisome assembly and function. 26319495

2015
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.050 GeneticVariation BEFREE Zellweger spectrum disorder (ZSD) is a disease continuum that results from inherited defects in PEX genes essential for normal peroxisome assembly. 24503136

2014
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.050 GeneticVariation BEFREE Autosomal recessive Zellweger spectrum disorder (ZSD), the main subgroup of the peroxisome biogenesis disorders (PBDs), can be caused by mutations in any of the 13 PEX genes. 23247051

2013
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.030 GeneticVariation BEFREE A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. 31254513

2019
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.030 GeneticVariation BEFREE We suggest that diosmetin, in clinical use for chronic venous disease, and related flavonoids warrant further preclinical investigation for the treatment of PEX1-G843D-associated ZSD. 30362618

2019
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.030 GeneticVariation BEFREE Thus, the Pex1-G844D mouse provides a powerful model system for testing candidate therapies that address the most common genetic cause of ZSD. 24503136

2014
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.020 GeneticVariation BEFREE Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 29220678

2017
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.020 GeneticVariation BEFREE Molecular testing identified disease-causing compound heterozygous mutations in the PEX6 gene supporting the Zellweger spectrum disorder diagnosis in this patient. 25079577

2014
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.010 GeneticVariation BEFREE Seven ALD pedigrees with ABCD1 mutations and one ZSD family harboring bi-allelic mutations of PEX16 were identified. 31227335

2019
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.010 GeneticVariation BEFREE Seven ALD pedigrees with ABCD1 mutations and one ZSD family harboring bi-allelic mutations of PEX16 were identified. 31227335

2019
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
CUI: C4687396
Disease: Zellweger Spectrum Disorder
Zellweger Spectrum Disorder 		0.010 Biomarker BEFREE Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder. 28673549

2017