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GENE - TERM ANNOTATION REPORT

RGD ID: 14287278
Species: Sus scrofa
RGD Object: Gene
Symbol: SLC25A13
Name: solute carrier family 25 member 13
Acc ID: DOID:0070340
Term: classic citrullinemia
Definition: A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. (DO)
Definition Source(s): https://www.omim.org/entry/215700 "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)
SLC25A13 ISOSLC25A13 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type IPMID:10369257 PMID:14680984 PMID:16199547 PMID:23022256 PMID:23053473 PMID:23067347 PMID:24069319 PMID:24586645 PMID:25216257 PMID:25741868 PMID:27405544 PMID:28492532 PMID:30887117 PMID:31180159 PMID:31450232 PMID:34045052 PMID:34704407 PMID:34800434 PMID:35798653 PMID:36599957
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