MPI

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  Unknown

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Disease associations (Open Targets)

• MPI-congenital disorder of glycosylation

  0.84

• neurodegenerative disease

  0.53

• congenital disorder of glycosylation

  0.38

• congenital disorder of glycosylation type I

  0.37

• SRD5A3-congenital disorder of glycosylation

  0.37

• diabetes mellitus

  0.28

• hypertensive disorder

  0.26

• degeneration of macula and posterior pole

  0.25

• macular degeneration

  0.24

• essential hypertension

  0.23

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

Protein function (UniProt)