MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Clubbing ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149651
Disease: Clubbing
Clubbing 		0.010 GeneticVariation phenotype BEFREE The disorders include "classic MED" (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, brachydactyly, and clubbed feet resultant from mutations in gene defect diastrophic dysplasia (DTDST). 15503005 2005