CSMD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• schizophrenia

  0.51

• alcohol drinking

  0.42

• autism spectrum disorder

  0.42

• insomnia

  0.40

• adolescent idiopathic scoliosis

  0.39

• Abnormality of the skeletal system

  0.39

• stroke disorder

  0.38

• mathematical ability

  0.36

• ovarian dysfunction

  0.36

• ulcerative colitis

  0.36

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

Protein function (UniProt)

Diseases associated with CSMD1

Curated MONDO disease pages that list CSMD1 among their top associated genes.

• schizophreniaRare
• placenta praeviaRare
• ovarian dysfunctionRare
• adolescent idiopathic scoliosisRare