CACHD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• syndromic complex neurodevelopmental disorder

  0.46

• alcohol drinking

  0.40

• Anxiety

  0.32

• endocrine system disorder

  0.31

• edema

  0.27

• brain compression

  0.27

• infectious disease

  0.22

• eye swelling

  0.21

• stroke disorder

  0.21

• cervical carcinoma

  0.21

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

Protein function (UniProt)