FMNL2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• open-angle glaucoma

  0.49

• glaucoma

  0.46

• frozen shoulder

  0.31

• Keratoconjunctivitis sicca

  0.29

• keratoconjunctivitis

  0.29

• urolithiasis

  0.29

• alcohol drinking

  0.29

• diabetes mellitus

  0.28

• Abnormal nasolacrimal system morphology

  0.28

• injury

  0.26

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

Protein function (UniProt)