| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | disease | BEFREE | Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. | 28330580 | 2017 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. | 29047053 | 2017 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Zellweger syndrome is known to be caused by numerous mutations that occur in at least 12 of the PEX genes. | 23590336 | 2014 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. | 22894767 | 2012 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Zellweger syndrome (ZS) is an autosomal recessive peroxisomal disorder that results from mutations in one of the peroxisome biogenesis (PEX) genes. | 17702006 | 2007 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Mutations in 12 different PEX genes can cause a generalized peroxisomal biogenesis disorder with clinical phenotypes ranging from Zellweger syndrome to infantile Refsum disease. | 17534573 | 2007 | ||||
|
0.090 | Biomarker | disease | BEFREE | In this study ten clinically and/or biochemically well-characterized patients with classical ZS were investigated for defects in all known human PEX genes. | 17041890 | 2006 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | To exclude that genetic differences, resulting in different defects in peroxisomal biogenesis, have differential effects on the activity of the cholesterol biosynthetic enzymes and on de novo cholesterol biosynthesis, we chose fibroblasts of patients with defined defects in one of four different PEX genes leading to Zellweger syndrome (PEX1, PEX5, PEX16 or PEX19). | 14680974 | 2003 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are necessary for the importation of targeted proteins into the peroxisomes. | 10590918 | 1999 |