NUDCD3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Omenn syndrome

  0.37

• severe combined immunodeficiency

  0.37

• pathological myopia

  0.29

• insomnia

  0.26

• Abnormality of limbs

  0.26

• neurodegenerative disease

  0.18

• placental abruption

  0.16

• hyperinsulinism due to INSR deficiency

  0.07

• metabolic syndrome

  0.07

• hyperinsulinism due to glucokinase deficiency

  0.06

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