MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Disproportionate short stature ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND