SRGAP3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• neurodegenerative disease

  0.53

• placenta praevia

  0.32

• COVID-19

  0.32

• severe acute respiratory syndrome

  0.32

• sign or symptom

  0.31

• gestational diabetes

  0.30

• Moyamoya disease

  0.26

• facial morphology

  0.24

• generalized dystonia

  0.22

• intestinal infectious disease

  0.21

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

Protein function (UniProt)