PEX13, peroxisomal biogenesis factor 13, 5194

N. diseases: 132; N. variants: 7
Disease: PEROXISOME BIOGENESIS DISORDER 11B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis. 23716570 2013
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease GENOMICS_ENGLAND Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 GeneticVariation disease UNIPROT Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. 10332040 1999
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 GeneticVariation disease UNIPROT PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. 10441568 1999
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 Biomarker disease CTD_human
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 CausalMutation disease CLINVAR