EMP2, epithelial membrane protein 2, 2013

N. diseases: 46; N. variants: 5
Disease: Steroid-sensitive nephrotic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.310 GeneticVariation disease BEFREE Mutations in Epithelial Membrane Protein 2 (<i>EMP2</i>), a member of the GAS3/PMP22 tetraspan family of proteins, were recently implicated as putative monogenic cause of steroid sensitive nephrotic syndrome. 31508419 2019
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in EMP2 cause childhood-onset nephrotic syndrome. 24814193 2014