DIS3L2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Embryonal tumour of possible germline origin

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Perlman syndrome

  0.82

• Abnormality of the skeletal system

  0.42

• alcohol drinking

  0.40

• ovarian dysfunction

  0.27

• facial morphology

  0.27

• Nephroblastoma

  0.27

• benign thyroid gland neoplasm

  0.26

• male reproductive organ cancer

  0.21

• hereditary disease

  0.19

• transient ischemic attack

  0.17

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

Protein function (UniProt)