Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019270
Disease: Hernia
Hernia 		0.010 GeneticVariation phenotype BEFREE Mesh OR Patch for Hernia on Epigastric and Umbilical Sites (MORPHEUS-Trial): The Complete Two-year Follow-up. 30339623 2019
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.010 GeneticVariation phenotype BEFREE Mesh Versus Patch Repair for Epigastric and Umbilical Hernia (MORPHEUS Trial); One-Year Results of a Randomized Controlled Trial. 29026977 2018
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.010 GeneticVariation disease BEFREE Mesh Versus Patch Repair for Epigastric and Umbilical Hernia (MORPHEUS Trial); One-Year Results of a Randomized Controlled Trial. 29026977 2018
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
CUI: C0473583
Disease: Nevus elasticus
Nevus elasticus 		0.010 GeneticVariation disease BEFREE In a comprehensive mutational screening, we have analysed the entire coding region of the pM5, MRP1, and NPIP genes in 7 patients affected with pseudoxanthoma elasticum, but failed to find evidence of disease-causing defects in any of these three genes. 11139250 2001