FERMT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

Disease associations (Open Targets)

• Kindler syndrome

  0.82

• Abnormality of the skeletal system

  0.37

• benign colon neoplasm

  0.36

• hypertensive disorder

  0.36

• atrial fibrillation

  0.34

• colorectal cancer

  0.32

• polyp of colon

  0.29

• colonic neoplasm

  0.28

• response to diuretic

  0.27

• colon carcinoma

  0.27

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

Protein function (UniProt)