BLOC1S6

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

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Hermansky-Pudlak syndrome 9

  0.77

• Hermansky-Pudlak syndrome

  0.69

• Hermansky-Pudlak syndrome type 9

  0.58

• Hermansky-Pudlak syndrome type 7

  0.38

• tooth disorder

  0.24

• hereditary disease

  0.19

• autoinflammatory syndrome

  0.12

• Abnormality of the skeletal system

  0.07

• Congenital pulmonary alveolar proteinosis

  0.06

• isolated agammaglobulinemia

  0.06

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

Protein function (UniProt)