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FGF9

Chr 13q12.11

fibroblast growth factor 9

MANE:
ENST00000382353.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Skeletal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • multiple synostoses syndrome

    0.74
  • cancer

    0.61
  • bone development disease

    0.60
  • female reproductive endometrioid cancer

    0.50
  • ovarian carcinoma

    0.47
  • craniosynostosis

    0.39
  • acrocephalosyndactyly

    0.37
  • hypertensive disorder

    0.33
  • open-angle glaucoma

    0.31
  • essential hypertension

    0.29

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

Protein function (UniProt)

Fibroblast growth factor 9

Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors

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.