MSH5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Primary ovarian insufficiency

  BIALLELIC, autosomal or pseudoautosomal

• Familial prostate cancer

  Unknown

Disease associations (Open Targets)

• primary ovarian failure

  0.60

• spermatogenic failure 74

  0.60

• neurodegenerative disease

  0.47

• premature ovarian failure 13

  0.40

• genetic non-acquired premature ovarian failure

  0.40

• male infertility with azoospermia or oligozoospermia due to single gene mutation

  0.39

• Azoospermia

  0.34

• spermatogenic failure

  0.07

• Female infertility due to fertilization defect

  0.07

• non-syndromic male infertility due to sperm motility disorder

  0.07

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

Protein function (UniProt)