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GENE - TERM ANNOTATION REPORT

RGD ID: 18912317
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Slc19a3
Name: solute carrier family 19 member 3
Acc ID: DOID:0050659
Term: biotin-responsive basal ganglia disease
Definition: A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK169615/ "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)
Slc19a3 ISOSLC19A3 (Homo sapiens)7240710OMIM  
Slc19a3 ISOSLC19A3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathyPMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 PMID:19387023 PMID:20065143 PMID:22777947 PMID:23423671 PMID:23482991 PMID:23589815 PMID:23742248 PMID:24166474 PMID:24372704 PMID:24667528 PMID:24957181 PMID:25741868 PMID:26077850 PMID:26443248 PMID:26467025 PMID:26657515 PMID:26863430 PMID:26938784 PMID:26975589 PMID:27290639 PMID:27749535 PMID:27841215 PMID:27896110 PMID:27905264 PMID:28492532 PMID:28518168 PMID:28677371 PMID:28696212 PMID:28832562 PMID:28856750 PMID:29101630 PMID:29236641 PMID:29287834 PMID:29453417 PMID:31061755 PMID:31130284 PMID:32034746 PMID:32461654 PMID:32600842 PMID:32679198 PMID:34276785 PMID:34992632 PMID:38279250 PMID:9536098
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