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GENE - TERM ANNOTATION REPORT

CRRD ID: 12435585
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: PREPL
Name: prolyl endopeptidase like
Acc ID: DOID:9266
Term: cystinuria
Definition: An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Definition Source(s): MESH:D003555, http://en.wikipedia.org/wiki/Cystinuria
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:88088559068941ClinVarClinVar Annotator: match by term: Cystinuria

 
 ISSRGD:88088559068941ClinVarClinVar Annotator: match by term: Cystinuria

PMID:15635077, PMID:20517292, PMID:22493502, PMID:24033266, PMID:25741868, PMID:26537754, PMID:28717662, PMID:7573036
 ISSRGD:88088559068941ClinVarClinVar Annotator: match by term: Cystinuria

PMID:22796000, PMID:24610330, PMID:28492532
 ISSRGD:88088559068941ClinVarClinVar Annotator: match by term: Cystinuria

PMID:28492532
 ISSRGD:88088559068941ClinVarClinVar Annotator: match by term: Cystinuria

PMID:28492532, PMID:7573036
 ISSRGD:88088559068941ClinVarClinVar Annotator: match by term: Cystinuria

PMID:8054986
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