POF1B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Primary ovarian insufficiency

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• primary ovarian failure

  0.49

• lymphatic system disorder

  0.34

• vein disorder

  0.34

• Varicose veins

  0.34

• Premature ovarian insufficiency

  0.12

• blue diaper syndrome

  0.04

• cholestasis, progressive familial intrahepatic, 7, with or without hearing loss

  0.04

• glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

  0.04

• hyperparathyroidism 2 with jaw tumors

  0.04

• Hyperparathyroidism-jaw tumor syndrome

  0.04

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

Protein function (UniProt)