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GENE - TERM ANNOTATION REPORT

RGD ID: 18535842
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: SLC6A19
Name: solute carrier family 6 member 19
Acc ID: DOID:1060
Term: Hartnup disease
Definition: An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. (DO)
Definition Source(s): http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup "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)
SLC6A19 ISOSLC6A19 (Homo sapiens)7240710OMIM  
SLC6A19 ISOSLC6A19 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defectPMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:17576681 PMID:18484095 PMID:19033659 PMID:19185582 PMID:19472175 PMID:20399395 PMID:21814048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28924877 PMID:30626930 PMID:35606766 PMID:9536098
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