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KIAA1549

Chr 7q34

KIAA1549

MANE:
ENST00000422774.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • retinitis pigmentosa 86

    0.67
  • cancer

    0.54
  • retinitis pigmentosa

    0.52
  • Retinal dystrophy

    0.38
  • neurodegenerative disease

    0.35
  • alcohol drinking

    0.34
  • ovarian neoplasm

    0.29
  • sinusitis

    0.29
  • urolithiasis

    0.26
  • pneumonitis

    0.25

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

Protein function (UniProt)

UPF0606 protein KIAA1549

May play a role in photoreceptor function

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.