OSTM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Osteopetrosis

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• infantile osteopetrosis with neuroaxonal dysplasia

  0.73

• Autosomal recessive malignant osteopetrosis

  0.64

• osteopetrosis

  0.44

• psoriasis

  0.33

• stroke disorder

  0.23

• alcohol drinking

  0.23

• alopecia areata

  0.22

• hereditary disease

  0.19

• tooth agenesis

  0.07

• renal cell carcinoma

  0.07

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

Protein function (UniProt)