MMRN1, multimerin 1, 22915

N. diseases: 272; N. variants: 3
Disease: Pseudoachondroplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		0.010 Biomarker disease BEFREE Therefore, we have generated the first mouse model to show extensive intracellular retention of ECM proteins recapitulating the human PSACH disease process at the cellular level. 19762713 2009