Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 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
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 Biomarker disease GENOMICS_ENGLAND Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. 19449432 2009
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 Biomarker disease CTD_human
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
0.600 CausalMutation disease CLINVAR