PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.110 GeneticVariation disease BEFREE Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. 17317787 2007
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.110 Biomarker disease HPO