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GENE - TERM ANNOTATION REPORT

RGD ID: 1606841
Species: Homo sapiens
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 IAGP 7240710OMIM  
NKX2-5 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
NKX2-5 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:25741868 PMID:28492532 PMID:32369864
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:24376681 PMID:25741868 PMID:26805889 PMID:27904570 PMID:28492532 PMID:28536625
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:14607454 PMID:17544441 PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:19933292 PMID:25741868 PMID:27152669 PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:12798584 PMID:14607454 PMID:24033266 PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:14607454 PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:25741868
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:25741868 PMID:28492532 PMID:29368431
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:11714651 PMID:25741868
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:11714651 PMID:15161646 PMID:15917268 PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:16418214 PMID:23285148 PMID:25741868 PMID:28492532
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:16418214
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:21110066 PMID:25741868 PMID:25742962 PMID:27152669 PMID:28492532 PMID:30508507 PMID:31824610 PMID:31983221 PMID:32425884
NKX2-5 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5PMID:12074273 PMID:18414213 PMID:22920929 PMID:25741868 PMID:28492532
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