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GENE - TERM ANNOTATION REPORT

RGD ID: 11957893
Species: Pan paniscus
RGD Object: Gene
Symbol: PAX8
Name: paired box 8
Acc ID: DOID:0070124
Term: congenital nongoitrous hypothyroidism 2
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9590296 "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)
PAX8 ISOPAX8 (Homo sapiens)7240710OMIM  
PAX8 ISOPAX8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2PMID:11232006 PMID:11502839 PMID:12116225 PMID:15356023 PMID:15718293 PMID:17437516 PMID:17980011 PMID:20302910 PMID:23647375 PMID:25741868 PMID:28060725 PMID:28444304 PMID:28492532 PMID:29159607 PMID:30222900 PMID:9382140 PMID:9523167 PMID:9590296
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