PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
Disease: Infantile Refsum Disease (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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