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GENE - TERM ANNOTATION REPORT

RGD ID: 1303268
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc38a7
Name: solute carrier family 38, member 7
Acc ID: DOID:1935
Term: Bardet-Biedl syndrome
Definition: A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome "DO" "DO", http://en.wikipedia.org/wiki/Ciliopathy "DO" "DO", http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome "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)
Slc38a7 ISOSLC38A7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bardet-Biedl syndromePMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059
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