PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 235; N. variants: 104
Disease: Zellweger-Like Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities. 26319495 2015
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease CTD_human Identification of a common PEX1 mutation in Zellweger syndrome. 10447258 1999
CUI: C0751594
Disease: Zellweger-Like Syndrome
Zellweger-Like Syndrome 		0.300 Biomarker disease 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