RFXAP

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)

• Immunodeficiency by defective expression of HLA class 2

  0.74

• MHC class II deficiency

  0.65

• MHC class II deficiency 4

  0.52

• neurodegenerative disease

  0.27

• oral mucosa leukoplakia

  0.22

• posterior polymorphous corneal dystrophy

  0.07

• Fuchs endothelial corneal dystrophy

  0.07

• Peters anomaly

  0.07

• Familial ocular anterior segment mesenchymal dysgenesis

  0.07

• early-onset non-syndromic cataract

  0.07

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

Protein function (UniProt)