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GENE - TERM ANNOTATION REPORT

RGD ID: 731878
Species: Mus musculus
RGD Object: Gene
Symbol: Nkx2-5
Name: NK2 homeobox 5
Acc ID: DOID:0070125
Term: congenital nongoitrous hypothyroidism 5
Definition: A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16418214 "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)
Nkx2-5 ISONKX2-5 (Homo sapiens)7240710OMIM  
Nkx2-5 ISONKX2-5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nkx2-5 ISONKX2-5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 PMID:15917268 PMID:16418214 PMID:17544441 PMID:17891434 PMID:18414213 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19933292 PMID:19948535 PMID:20456451 PMID:20807224 PMID:21110066 PMID:22920929 PMID:23285148 PMID:23661673 PMID:24033266 PMID:24376681 PMID:25741868 PMID:26805889 PMID:27152669 PMID:27904570 PMID:28492532 PMID:28536625 PMID:29368431 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32369864 PMID:32425884
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