FAM111B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pigmentary skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• hereditary sclerosing poikiloderma with tendon and pulmonary involvement

  0.73

• prostate carcinoma

  0.32

• neurodegenerative disease

  0.26

• Abnormal nasolacrimal system morphology

  0.24

• major salivary gland cancer

  0.24

• hereditary disease

  0.19

• pulmonary fibrosis

  0.12

• neoplasm

  0.10

• hepatocellular carcinoma

  0.10

• cancer

  0.10

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

Protein function (UniProt)