MSH4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Primary ovarian insufficiency

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• spermatogenic failure 2

  0.72

• premature ovarian failure 20

  0.62

• genetic non-acquired premature ovarian failure

  0.48

• primary ovarian failure

  0.47

• Premature ovarian insufficiency

  0.46

• 46,XX gonadal dysgenesis

  0.37

• 46 XX gonadal dysgenesis

  0.37

• oligospermia

  0.34

• cervical carcinoma

  0.20

• hereditary disease

  0.19

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

Protein function (UniProt)