| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.560 | GeneticVariation | disease | BEFREE | Molecular analysis was homozygous for the D347Y mutation and reduced gene expression of PEX3 which encodes a peroxisomal membrane protein, pex3p, involved in peroxisome assembly at the early stage of peroxisomal membrane vesicle formation, therefore, patients with a mutated PEX3 gene have been reported to have only a severe phenotype of Zellweger syndrome and no or less peroxisomal remnant membrane structure. | 23245813 | 2013 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | Here, we show that Pex3p-GFP expressed in a new ZS cell line (MR), which lacks peroxisomes due to a mutation in the PEX3 gene, localizes first in the ER and subsequently in newly formed peroxisomes. | 19479899 | 2009 | ||||
|
0.560 | Biomarker | disease | BEFREE | Homozygous PEX3 mutations, each leading to C-terminal truncation of PEX3, were identified in the two patients, who both suffered from a severe Zellweger syndrome phenotype. | 10958759 | 2000 | ||||
|
0.560 | Biomarker | disease | BEFREE | PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. | 10968777 | 2000 | ||||
|
0.560 | Biomarker | disease | CTD_human | Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. | 10942428 | 2000 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. | 10942428 | 2000 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | Here, we show that inactivating mutations in human PEX3 cause Zellweger syndrome, abrogate peroxisome membrane synthesis, and result in reduced abundance of peroxisomal membrane proteins (PMPs) and/or mislocalization of PMPs to the mitochondria. | 10871277 | 2000 | ||||
|
0.560 | Biomarker | disease | GENOMICS_ENGLAND |