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GENE - TERM ANNOTATION REPORT

RGD ID: 737316
Species: Homo sapiens
RGD Object: Gene
Symbol: CBS
Name: cystathionine beta-synthase
Acc ID: DOID:9279
Term: hyperhomocysteinemia
Definition: An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hyperhomocysteinemia "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)
CBSsusceptibilityIAGP 40903036RGDassociated with coronary artery disease; DNA:insertion:cds: (844ins68) (human) 
CBS ISOCbs (Rattus norvegicus)1600624RGDmRNA:decreased expression, protein:decreased expression 
CBS EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:17292331 PMID:19028542 PMID:19204075
CBS IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HyperhomocysteinemiaPMID:12686134 PMID:16205833 PMID:16479318 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25741868 PMID:28492532 PMID:7762555
CBS ISSCbs (Mus musculus)13592920MouseDOOMIM:603174 
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