NUP188

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• sandestig-stefanova syndrome

  0.79

• HIV infectious disease

  0.54

• influenza

  0.54

• viral infectious disease

  0.53

• microcephaly

  0.45

• cataract

  0.37

• Abnormal brain morphology

  0.37

• Histiocytosis

  0.37

• COVID-19

  0.37

• Alzheimer disease

  0.27

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

Protein function (UniProt)

Diseases associated with NUP188

Curated MONDO disease pages that list NUP188 among their top associated genes.

• viral infectious diseaseRare