PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND First Japanese case of Zellweger syndrome with a mutation in PEX14. 26627464 2015
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a novel PEX14 mutation in Zellweger syndrome. 18285423 2008
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. 15146459 2004
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease CTD_human
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3554004
Disease: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 		0.600 CausalMutation disease CLINVAR
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: 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: 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: 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: 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
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		0.520 Biomarker disease GENOMICS_ENGLAND
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.310 Biomarker disease BEFREE In this study, peroxisome numbers were determined in fibroblasts from 29 PBD (ZS, NALD, and IRD) patients, with various phenotypes from nine complementation groups, using antibodies against either a peroxisomal membrane protein (anti-Pex14p) or peroxisomal matrix proteins (anti-SKL). 10716247 2000
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011