ZNF865

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• neurodevelopmental disorder

  0.25

• Parkinson disease

  0.03

• metabolic syndrome

  0.02

• Dowling-Degos disease 1

  0.02

• endometriosis

  0.02

• Neurodevelopmental delay

  0.01

• intervertebral disk degenerative disorder

  0.01

• neurodegenerative disease

  0.01

• esophageal cancer

  0.00

• ulcerative colitis

  0.00

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

Protein function (UniProt)