HPS3

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

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ocular and oculo-cutaneous albinism

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Hermansky-Pudlak syndrome 3

  0.79

• Hermansky-Pudlak syndrome

  0.76

• Hermansky-Pudlak syndrome without pulmonary fibrosis

  0.64

• Hermansky-Pudlak syndrome 2

  0.27

• preeclampsia

  0.23

• alcohol drinking

  0.22

• hereditary disease

  0.19

• aceruloplasminemia

  0.18

• prostate cancer

  0.11

• Thrombocytopenia

  0.11

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

Protein function (UniProt)