DCHS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• auditory system disorder

  0.48

• trigeminal nerve disorder

  0.32

• Graves disease

  0.31

• thyrotoxic periodic paralysis

  0.31

• secondary malignant neoplasm

  0.26

• urolithiasis

  0.24

• alcohol drinking

  0.24

• mastodynia

  0.23

• prostatitis

  0.21

• pituitary stalk interruption syndrome

  0.19

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

Protein function (UniProt)