HPS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Albinism or congenital nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Hermansky-Pudlak syndrome

  0.82

• Hermansky-Pudlak syndrome with pulmonary fibrosis

  0.74

• oculocutaneous albinism

  0.47

• inflammatory bowel disease

  0.47

• pulmonary fibrosis

  0.47

• Abnormal bleeding

  0.46

• hereditary disease

  0.42

• lung disorder

  0.37

• pulmonary vascular congestion

  0.26

• benign prostatic hyperplasia

  0.22

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

Protein function (UniProt)