Gene: PEX12 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach. 29389947 2018
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group BEFREE Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency. 26947510 2016
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Zellweger syndrome and secondary mitochondrial myopathy. 25287621 2015
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596 2011
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. 19877282 2010
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group CLINVAR Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. 19105186 2009
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group BEFREE Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. 14571262 2004
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397 2004
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978 2004
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 Biomarker group BEFREE We likewise isolated PEX12 encoding a peroxisomal integral membrane protein in the RING family, by functional complementation of ZP109, demonstrating PEX12 to be responsible for CG-III PBD. 11330042 2000
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group CLINVAR Genotype-phenotype correlations in disorders of peroxisome biogenesis. 10527683 1999
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857 1998
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 CausalMutation group CLINVAR Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders. 9792857 1998
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 GeneticVariation group BEFREE A comparison between PEX12 genotypes and the clinical and cellular phenotypes of the corresponding PBD patients suggests a relatively straightforward relationship between genotype and phenotype in this group of the PBDs, such that the loss of PEX12 function leads to more-severe cellular and clinical phenotypes. 9792857 1998
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 Biomarker group CTD_human These data demonstrate that mutations in PEX12 are responsible for CG3 of the PBD and that PEX12 plays an essential role in peroxisomal matrix protein import. 9090384 1997
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		0.650 Biomarker group BEFREE These data demonstrate that mutations in PEX12 are responsible for CG3 of the PBD and that PEX12 plays an essential role in peroxisomal matrix protein import. 9090384 1997