MVK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Autoinflammatory disorders

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Familial disseminated superficial actinic porokeratosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

+15 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• hyperimmunoglobulinemia D with periodic fever

  0.85

• mevalonic aciduria

  0.84

• porokeratosis 3, disseminated superficial actinic type

  0.75

• mevalonate kinase deficiency

  0.59

• methylmalonic aciduria, cblB type

  0.55

• Vitamin B12-responsive methylmalonic acidemia type cblB

  0.55

• neurodegenerative disease

  0.53

• autoinflammatory syndrome

  0.52

• Retinal dystrophy

  0.51

• hereditary disease

  0.47

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

Protein function (UniProt)