ABCC6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial cerebral small vessel disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Generalised arterial calcification in infancy

  BIALLELIC, autosomal or pseudoautosomal

• Pseudoxanthoma elasticum

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cerebral vascular malformations

  Unknown

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Disease associations (Open Targets)

• Pseudoxanthoma elasticum

  0.87

• arterial calcification, generalized, of infancy, 2

  0.81

• Generalized arterial calcification of infancy

  0.77

• autosomal recessive inherited pseudoxanthoma elasticum

  0.75

• pseudoxanthoma elasticum (inherited or acquired)

  0.62

• Retinal dystrophy

  0.50

• inherited pseudoxanthoma elasticum

  0.46

• hereditary disease

  0.42

• Abnormality of the eye

  0.40

• nephrolithiasis

  0.40

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

Protein function (UniProt)