MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		0.600 Biomarker disease GENOMICS_ENGLAND Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		0.600 GeneticVariation disease UNIPROT Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. 15121775 2004
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		0.600 GermlineCausalMutation disease ORPHANET Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD. 15121775 2004
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1837481
Disease: Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 		0.600 Biomarker disease CTD_human