IFITM5

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

• Osteogenesis imperfecta

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• osteogenesis imperfecta type 5

  0.74

• osteogenesis imperfecta

  0.50

• skeletal dysplasia

  0.37

• postmenopausal osteoporosis

  0.34

• hereditary disease

  0.19

• Leri-Weill dyschondrosteosis

  0.07

• Léri-Weill dyschondrosteosis

  0.07

• Hypocalcemic vitamin D-resistant rickets

  0.07

• cleidocranial dysplasia 1

  0.07

• metaphyseal anadysplasia

  0.07

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

Protein function (UniProt)