ERGIC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• arthrogryposis multiplex congenita 2, neurogenic type

  0.62

• Neurogenic arthrogryposis multiplex congenita

  0.59

• inflammatory bowel disease

  0.38

• vein disorder

  0.36

• asthma

  0.34

• ulcerative colitis

  0.31

• Varicose veins

  0.30

• tooth disorder

  0.27

• Flexion contracture

  0.26

• lymphatic system disorder

  0.26

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

Protein function (UniProt)