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GNRH1

Chr 8p21.2

gonadotropin releasing hormone 1

Aliases:
LNRH
MANE:
ENST00000421054.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism 12 with or without anosmia

    0.55
  • isolated congenital hypogonadotropic hypogonadism

    0.51
  • hypogonadotropic hypogonadism

    0.48
  • isolated thyroid-stimulating hormone deficiency

    0.37
  • endometriosis

    0.31
  • uterine corpus leiomyoma

    0.25
  • alcohol drinking

    0.14
  • type 2 diabetes mellitus

    0.13
  • chondromalacia

    0.12
  • amenorrhea

    0.12

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

Protein function (UniProt)

Progonadoliberin-1

Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones

Curated MONDO disease pages that list GNRH1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.