SP110

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hepatic veno-occlusive disease-immunodeficiency syndrome

  0.75

• Hepatic veno-occlusive disease - immunodeficiency

  0.62

• lymphoid neoplasm

  0.38

• Crohn disease

  0.28

• cervical carcinoma

  0.25

• frozen shoulder

  0.24

• hereditary disease

  0.19

• multiple sclerosis

  0.12

• B-cell chronic lymphocytic leukemia

  0.11

• leukemia

  0.08

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

Protein function (UniProt)