ROGDI

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Amelogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Amelo-cerebro-hypohidrotic syndrome

  0.81

• amelocerebrohypohidrotic syndrome

  0.81

• hereditary disease

  0.19

• autosomal recessive primary microcephaly

  0.06

• skin aging

  0.06

• genetic developmental and epileptic encephalopathy

  0.06

• X-linked non-syndromic intellectual disability

  0.06

• Galloway-Mowat syndrome

  0.05

• holoprosencephaly

  0.05

• X-linked intellectual disability - cerebellar hypoplasia

  0.05

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