ZNHIT3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Primary lymphoedema

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• PEHO syndrome

  0.53

• PEHO-like syndrome

  0.42

• neurodegenerative disease

  0.42

• multiple sclerosis

  0.32

• hereditary disease

  0.19

• type 2 diabetes mellitus

  0.18

• mathematical ability

  0.16

• response to statin

  0.14

• nervous system cancer

  0.13

• brain cancer

  0.13

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