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GENE - TERM ANNOTATION REPORT

RGD ID: 14027075
Species: Sus scrofa
RGD Object: Gene
Symbol: SLC13A5
Name: solute carrier family 13 member 5
Acc ID: DOID:0080453
Term: developmental and epileptic encephalopathy 25
Definition: A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)
Definition Source(s): PMID:24995870 "DO" "DO", PMID:27600704 "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)
SLC13A5 ISOSLC13A5 (Homo sapiens)7240710OMIM  
SLC13A5 ISOSLC13A5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfectaPMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:26467025 PMID:26960556 PMID:27261973 PMID:27600704 PMID:27913086 PMID:28327206 PMID:28492532 PMID:28673551 PMID:30054523 PMID:30525188 PMID:31780880 PMID:32551328 PMID:33040525 PMID:33063863 PMID:33258288 PMID:34233239 PMID:34489640 PMID:37025451 PMID:39825153 PMID:9536098
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