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GENE - TERM ANNOTATION REPORT

RGD ID: 11186
Species: Mus musculus
RGD Object: Gene
Symbol: Pth
Name: parathyroid hormone
Acc ID: DOID:0111387
Term: familial isolated hypoparathyroidism
Definition: A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11602629 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2212001 "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)
Pth ISOPTH (Homo sapiens)1598941RGDDNA:missense mutation:cds:p.C18R (human) 
Pth ISOPTH (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pth ISOPTH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial isolated hypoparathyroidismPMID:1302009 PMID:1425431 PMID:18784115 PMID:24033266 PMID:25741868 PMID:28492532
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