EXPH5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa

  BIALLELIC, autosomal or pseudoautosomal

• Epidermolysis bullosa and congenital skin fragility

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

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

  0.74

• hereditary disease

  0.42

• epidermolysis bullosa simplex

  0.37

• prostate carcinoma

  0.35

• placenta praevia

  0.28

• hepatocellular carcinoma

  0.05

• renal carcinoma

  0.05

• clear cell renal carcinoma

  0.05

• metabolic dysfunction-associated steatotic liver disease

  0.04

• obesity disorder

  0.04

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

Protein function (UniProt)