MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.040 GeneticVariation group LHGDN Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.040 GeneticVariation group LHGDN Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. 14994237 2004
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.040 GeneticVariation group LHGDN Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835 2004
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.040 GeneticVariation group LHGDN Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 15459972 2004