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GENE - TERM ANNOTATION REPORT

RGD ID: 18622718
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SLC5A5
Name: solute carrier family 5 member 5
Acc ID: DOID:0112185
Term: thyroid dyshormonogenesis 1
Definition: A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/9171822/ "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)
SLC5A5 ISOSLC5A5 (Homo sapiens)7240710OMIM  
SLC5A5 ISOSLC5A5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 | ClinVar Annotator: match by term: IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT | ClinVar Annotator: match by term: SLC5A5-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1PMID:10487695 PMID:10902780 PMID:10907989 PMID:18339708 PMID:21054210 PMID:21565787 PMID:25525159 PMID:25741868 PMID:28492532 PMID:30240412 PMID:32805706 PMID:33692749 PMID:3998954 PMID:9171822 PMID:9388506 PMID:9398697 PMID:9486973 PMID:9657379 PMID:9709973 PMID:9745458 PMID:9814502
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