Gene: PEX6 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. 29220678 2017
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Spectrum of PEX1 and PEX6 variants in Heimler syndrome. 27302843 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder. 26700162 2016
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. 24016303 2013
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 GeneticVariation group CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR Rational diagnostic strategy for Zellweger syndrome spectrum patients. 19142205 2009
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6. 11355018 2001
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 CausalMutation group CLINVAR The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor. 8670792 1996
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.680 GeneticVariation group CLINVAR These results confirm that human PAF-2 cDNA restores peroxisome of group C cells and that defects in the PAF-2 produce peroxisome deficiency of group C PBD. 8940266 1996