TAPT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• complex lethal osteochondrodysplasia

  0.69

• osteochondrodysplasia

  0.46

• osteogenesis imperfecta

  0.37

• connective tissue disorder

  0.27

• diabetic ketoacidosis

  0.27

• intracranial hemorrhage

  0.25

• intelligence

  0.25

• eye disorder

  0.22

• cervical carcinoma

  0.21

• crush injury

  0.20

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

Protein function (UniProt)