MIR184

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Corneal abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Corneal dystrophy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• EDICT syndrome

  0.66

• keratoconus

  0.38

• Developmental cataract

  0.11

• autosomal dominant hyperinsulinism due to Kir6.2 deficiency

  0.07

• autosomal dominant hyperinsulinism due to SUR1 deficiency

  0.06

• hyperinsulinism due to INSR deficiency

  0.06

• exercise-induced hyperinsulinism

  0.06

• hyperinsulinism due to glucokinase deficiency

  0.06

• diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

  0.06

• hyperinsulinemic hypoglycemia, familial, 2

  0.06

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