GPR101

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Endocrine neoplasia

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Paediatric disorders - additional genes

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• growth hormone-secreting pituitary adenoma

  0.52

• type 2 diabetes mellitus

  0.17

• X-linked acrogigantism due to Xq26 microduplication

  0.16

• early-onset non-syndromic cataract

  0.08

• Peters anomaly

  0.07

• Familial ocular anterior segment mesenchymal dysgenesis

  0.07

• Posterior polar cataract

  0.07

• early-onset zonular cataract

  0.07

• retinitis pigmentosa

  0.07

• posterior polymorphous corneal dystrophy

  0.07

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

Protein function (UniProt)