TTC7A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric pseudo-obstruction syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• multiple intestinal atresia

  0.79

• gastrointestinal defects and immunodeficiency syndrome 1

  0.77

• gastrointestinal defect and immunodeficiency syndrome

  0.71

• severe combined immunodeficiency

  0.57

• combined immunodeficiency

  0.47

• common variable immunodeficiency

  0.44

• neurodegenerative disease

  0.33

• cholelithiasis

  0.28

• duodenitis

  0.26

• preeclampsia

  0.24

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

Protein function (UniProt)