CCER2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Moyamoya disease

  0.19

• hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

  0.12

• dementia

  0.07

• type 2 diabetes mellitus

  0.04

• Merkel cell skin cancer

  0.03

• diabetes mellitus

  0.02

• glioblastoma

  0.02

• psoriasis

  0.02

• neoplasm

  0.01

• multiminicore myopathy

  0.01

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