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GENE - TERM ANNOTATION REPORT

RGD ID: 69270
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc5a7
Name: solute carrier family 5 member 7
Acc ID: DOID:0110661
Term: congenital myasthenic syndrome 20
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27569547 "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)
Slc5a7 ISOSLC5A7 (Homo sapiens)7240710OMIM  
Slc5a7 ISOSLC5A7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome 20 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynapticPMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223
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