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GENE - TERM ANNOTATION REPORT

RGD ID: 731975
Species: Homo sapiens
RGD Object: Gene
Symbol: KISS1R
Name: KISS1 receptor
Acc ID: DOID:0090074
Term: hypogonadotropic hypogonadism 8 with or without anosmia
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14573733 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23643382 "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)
KISS1R IAGP 7240710OMIM  
KISS1R EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmiaPMID:20371656 PMID:25741868 PMID:26467025 PMID:28492532
KISS1R IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmiaPMID:25741868
KISS1R IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmiaPMID:25741868 PMID:26467025 PMID:28492532
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmiaPMID:25741868 PMID:28492532
KISS1R IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia 
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmiaPMID:12788881 PMID:18772143
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmiaPMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmiaPMID:12944565
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmiaPMID:17164310 PMID:23349759 PMID:25741868
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmiaPMID:23643382 PMID:28492532
KISS1R IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmiaPMID:23349759
KISS1R ISSKiss1r (Mus musculus)13592920MouseDOOMIM:614837 
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