Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
0.910 GeneticVariation BEFREE In order to dissect the role of XBP1 signalling in aggregation-related conditions we crossed a p.V194D Matn3 knock-in mouse model of EDM5 with a mouse line carrying a cartilage specific deletion of XBP1 and analysed the resulting phenotype. 31260448

2019