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GENE - TERM ANNOTATION REPORT

RGD ID: 70513
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gnrhr
Name: gonadotropin releasing hormone receptor
Acc ID: DOID:0090078
Term: hypogonadotropic hypogonadism 7 with or without anosmia
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17235395 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9371856 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gnrhr ISOGNRHR (Homo sapiens)11567265RGDDNA:missense mutations: :p.Q106R, p.R262Q (human) 
Gnrhr ISOGNRHR (Homo sapiens)7240710OMIM  
Gnrhr ISOGNRHR (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Gnrhr ISOGNRHR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadismPMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:10772899 PMID:10999776 PMID:11297587 PMID:11318785 PMID:11397842 PMID:11397871 PMID:11994356 PMID:12050282 PMID:12057744 PMID:12107234 PMID:12364481 PMID:12477532 PMID:12568864 PMID:12574221 PMID:12606630 PMID:12679486 PMID:12890567 PMID:15240592 PMID:15728205 PMID:16213849 PMID:16359986 PMID:16968799 PMID:17235395 PMID:19449676 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:21736917 PMID:22031817 PMID:22035731 PMID:22405597 PMID:22679506 PMID:22724017 PMID:22745237 PMID:22766261 PMID:22918878 PMID:23155690 PMID:23295295 PMID:23341491 PMID:23643382 PMID:23650335 PMID:24033266 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25636053 PMID:25741868 PMID:25741905 PMID:26207952 PMID:26467025 PMID:26708526 PMID:27094476 PMID:27544332 PMID:27884859 PMID:28295047 PMID:28492532 PMID:28611058 PMID:29182666 PMID:30415482 PMID:30476149 PMID:32520725 PMID:32870266 PMID:33223529 PMID:33592857 PMID:33968656 PMID:7557974 PMID:9371856 PMID:9425890 PMID:9449676
Gnrhr ISSGnrhr (Mus musculus)13592920MouseDOOMIM:146110 
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