BLOC1S3

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

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Hermansky-Pudlak syndrome 8

  0.69

• Hermansky-Pudlak syndrome

  0.63

• Hermansky-Pudlak syndrome type 8

  0.47

• skin sensitivity to sun

  0.40

• Hermansky-Pudlak syndrome type 7

  0.37

• neurodegenerative disease

  0.32

• hereditary disease

  0.19

• infection

  0.08

• neoplasm

  0.08

• Griscelli disease

  0.06

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

Protein function (UniProt)