SIM1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Severe early-onset obesity

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• obesity due to SIM1 deficiency

  0.61

• obesity disorder

  0.46

• hereditary disease

  0.41

• Obesity

  0.41

• Abnormality of the skeletal system

  0.41

• Snoring

  0.40

• androgenetic alopecia

  0.40

• obesity due to melanocortin 4 receptor deficiency

  0.40

• placental abruption

  0.39

• hearing loss disorder

  0.38

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

Protein function (UniProt)

Diseases associated with SIM1

Curated MONDO disease pages that list SIM1 among their top associated genes.

• placental abruptionRare
• obesity due to melanocortin 4 receptor deficiencyRare