Disease: Pseudoxanthoma Elasticum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		0.010 GeneticVariation disease BEFREE Our data exclude the responsibility of the pM5, MRP1 and NPIP genes in PXE, and strongly suggest that mutations in the last remaining candidate gene, MRP6, which encodes a 1503 amino-acid ABC membrane transporter, are the genetic defect responsible for PXE. 11139250 2001