ADA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Severe combined immunodeficiency with adenosine deaminase deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

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Disease associations (Open Targets)

• Severe combined immunodeficiency due to adenosine deaminase deficiency

  0.86

• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

  0.86

• severe combined immunodeficiency

  0.65

• partial adenosine deaminase deficiency

  0.64

• Omenn syndrome

  0.47

• T-B+ severe combined immunodeficiency

  0.46

• T-B- severe combined immunodeficiency

  0.46

• hairy cell leukemia

  0.40

• neoplasm

  0.40

• anemia

  0.37

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

Protein function (UniProt)