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GenoLensGenoLens

CYS1

Chr 2p25.1

cystin 1

MANE:
ENST00000381813.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Cystic kidney disease

    BIALLELIC, autosomal or pseudoautosomal
  • Renal ciliopathies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • atrial fibrillation

    0.37
  • autosomal recessive polycystic kidney disease

    0.36
  • neurodegenerative disease

    0.35
  • polyarteritis nodosa

    0.32
  • gout

    0.30
  • polycystic kidney disease

    0.23
  • duodenal ulcer

    0.18
  • polycystic liver disease 3 with or without kidney cysts

    0.10
  • polycystic liver disease 4 with or without kidney cysts

    0.10
  • renal cysts and diabetes syndrome

    0.09

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

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.