Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry. 28089346

2017
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372

2014
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. 23430938

2012
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. 21465523

2011
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. 21031596

2011
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. 14630978

2004
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. 15542397

2004
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. 10528859

1999
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.630 CausalMutation CLINVAR Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. 9585609

1998