IGLL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• isolated agammaglobulinemia

  0.50

• agammaglobulinemia

  0.47

• autosomal agammaglobulinemia

  0.42

• Abnormality of the skeletal system

  0.13

• benign neoplasm

  0.12

• Splenomegaly

  0.12

• crush injury

  0.09

• Alzheimer disease

  0.08

• acute lymphoblastic leukemia

  0.08

• neuroendocrine neoplasm

  0.06

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

Protein function (UniProt)