MATN3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Multiple Epiphyseal Dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteogenesis imperfecta

Disease associations (Open Targets)

• multiple epiphyseal dysplasia type 5

  0.83

• spondyloepimetaphyseal dysplasia, matrilin-3 type

  0.67

• multiple epiphyseal dysplasia

  0.60

• osteoarthritis

  0.47

• multiple epiphyseal dysplasia, Beighton type

  0.46

• hereditary disease

  0.41

• spondyloepimetaphyseal dysplasia

  0.37

• Abnormality of the skeletal system

  0.37

• Disproportionate short stature

  0.37

• pseudoachondroplasia

  0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)