PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
Disease: Peroxisome biogenesis disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.520 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.520 Biomarker group CTD_human Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. 20647552 2010
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.520 Biomarker group CTD_human Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.520 GeneticVariation group BEFREE At present, 13 complementation groups of peroxisome biogenesis disorders and their responsible genes have been identified, including our newly identified group with a PEX14 defect. 15921234 2005
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.520 Biomarker group CTD_human These findings indicate that there are 13 genotypes in PBD and that the role of PEX14 is also essential in humans. 15146459 2004
CUI: C1832200
Disease: Peroxisome biogenesis disorders
Peroxisome biogenesis disorders 		0.520 Biomarker group BEFREE These findings indicate that there are 13 genotypes in PBD and that the role of PEX14 is also essential in humans. 15146459 2004