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GENE - TERM ANNOTATION REPORT

RGD ID: 69101
Species: Homo sapiens
RGD Object: Gene
Symbol: GH1
Name: growth hormone 1
Acc ID: DOID:9003177
Term: Kowarski Syndrome
Definition: null
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)
GH1 IAGP 1601313RGDDNA:point mutation:exon:p.D122G (human) 
GH1 IAGP 7240710OMIM  
GH1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
GH1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:25741868 PMID:28492532
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:25741868 PMID:26467025
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:26467025
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:26467025 PMID:28492532 PMID:9152628
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:10372722 PMID:10445339 PMID:25741868 PMID:28492532 PMID:34850017 PMID:8530604
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:17519310 PMID:8552145
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:9276733
GH1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedinPMID:15713716
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