EVC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Ellis-van Creveld syndrome

  0.82

• acrofacial dysostosis, Weyers type

  0.80

• Ellis Van Creveld syndrome

  0.79

• short-rib thoracic dysplasia 6 with or without polydactyly

  0.48

• Abnormality of refraction

  0.31

• arthritic joint disease

  0.27

• reading

  0.25

• cervical carcinoma

  0.23

• hereditary disease

  0.19

• nephronophthisis

  0.11

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

Protein function (UniProt)