PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
Disease: Zellweger Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 GeneticVariation disease BEFREE Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease LHGDN Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease CTD_human Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease BEFREE Indeed, human PEX14 rescues the import of a PTS1-dependent as well as a PTS2-dependent protein into the peroxisomes in fibroblasts from a patient with Zellweger syndrome belonging to the new complementation group. 15146459 2004
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease CTD_human Indeed, human PEX14 rescues the import of a PTS1-dependent as well as a PTS2-dependent protein into the peroxisomes in fibroblasts from a patient with Zellweger syndrome belonging to the new complementation group. 15146459 2004
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND