DNAJC3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

Disease associations (Open Targets)

• juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

  0.74

• influenza

  0.37

• dengue disease

  0.37

• hereditary disease

  0.34

• gout

  0.29

• male infertility

  0.14

• Familial prostate cancer

  0.11

• prostate cancer

  0.11

• sialolithiasis

  0.09

• infection

  0.08

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

Protein function (UniProt)