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CDHR1

Chr 10q23.1

cadherin related family member 1

Aliases:
KIAA1775, CORD15, RP65
MANE:
ENST00000623527.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cone-rod dystrophy 15

    0.71
  • retinitis pigmentosa

    0.66
  • Cone rod dystrophy

    0.66
  • retinitis pigmentosa 65

    0.63
  • cone-rod dystrophy

    0.56
  • Retinal dystrophy

    0.56
  • macular dystrophy, retinal, 5

    0.47
  • Rod-cone dystrophy

    0.38
  • autosomal recessive cone rod dystrophy

    0.37
  • eye disorder

    0.37

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

Protein function (UniProt)

Cadherin-related family member 1

Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity)

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.