IL1RAPL2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• osteoarthritis, hip

  0.17

• central nervous system cancer

  0.03

• non-small cell lung carcinoma

  0.03

• Duchenne muscular dystrophy

  0.01

• autism

  0.01

• autism spectrum disorder

  0.01

• primary biliary cholangitis

  0.01

• migraine disorder

  0.01

• hepatocellular carcinoma

  0.01

• bipolar disorder

  0.01

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