DLL3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Familial Hirschsprung Disease

  Unknown

• Familial Neural Tube Defects

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• spondylocostal dysostosis 1, autosomal recessive

  0.72

• small cell lung carcinoma

  0.59

• autosomal recessive spondylocostal dysostosis

  0.53

• neurodegenerative disease

  0.53

• cancer

  0.46

• hereditary disease

  0.42

• neoplasm

  0.40

• spondylocostal dysostosis

  0.38

• leukodystrophy and acquired microcephaly with or without dystonia;

  0.34

• Hemivertebrae

  0.34

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

Protein function (UniProt)

Diseases associated with DLL3

Curated MONDO disease pages that list DLL3 among their top associated genes.

• small cell lung carcinomaRare