CCDC50

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• autosomal dominant nonsyndromic hearing loss

  0.57

• neurodegenerative disease

  0.43

• hypothyroidism

  0.42

• deafness

  0.37

• hearing loss disorder

  0.37

• smoking initiation

  0.32

• complication

  0.26

• placenta praevia

  0.26

• gastrointestinal disease

  0.26

• Abnormality of the skeletal system

  0.24

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

Protein function (UniProt)