ZNF699

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• DEGCAGS syndrome

  0.71

• complex neurodevelopmental disorder

  0.37

• hereditary disease

  0.19

• Diamond-Blackfan anemia

  0.12

• Blackfan-Diamond anemia

  0.12

• Abnormality of the skeletal system

  0.05

• amyotrophic lateral sclerosis

  0.03

• alcohol dependence

  0.02

• neoplasm

  0.02

• fetal growth restriction

  0.01

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

Protein function (UniProt)