VWA8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• orofacial cleft

  0.38

• ovarian neoplasm

  0.31

• stroke disorder

  0.29

• alcohol drinking

  0.29

• Abnormality of the skeletal system

  0.28

• Alzheimer disease

  0.26

• ocular hypotension

  0.26

• urinary system disorder

  0.26

• placental retention

  0.25

• glomerulonephritis

  0.23

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

Protein function (UniProt)