ITGA3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

  0.80

• Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome

  0.77

• neurodegenerative disease

  0.50

• junctional epidermolysis bullosa

  0.37

• Junctional epidermolysis bullosa, Herlitz type

  0.37

• epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive

  0.37

• nephrotic syndrome

  0.34

• asthma

  0.27

• type 2 diabetes mellitus

  0.21

• hereditary disease

  0.19

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

Protein function (UniProt)