FGF3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Deafness and congenital structural abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

Disease associations (Open Targets)

• deafness with labyrinthine aplasia, microtia, and microdontia

  0.79

• cancer

  0.59

• bone development disease

  0.57

• female reproductive endometrioid cancer

  0.46

• ovarian carcinoma

  0.37

• hearing loss disorder

  0.37

• Hearing impairment

  0.33

• breast adenocarcinoma

  0.23

• alcohol drinking

  0.19

• hereditary disease

  0.19

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

Protein function (UniProt)