Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker CTD_human Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 26319495

2015
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker CTD_human To address the molecular basis of disease in Zellweger syndrome patients from CG1, we examined all 24 PEX1 exons in four patients, including both patients that have mutations in PMP70. 10447258

1999
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker CTD_human Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. 9539740

1998
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 9398847

1997
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.800 Biomarker GENOMICS_ENGLAND Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 9398848

1997