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GENE - TERM ANNOTATION REPORT

RGD ID: 620596
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ccr5
Name: C-C motif chemokine receptor 5
Acc ID: DOID:2377
Term: multiple sclerosis
Definition: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Multiple_sclerosis "DO" "DO", https://ghr.nlm.nih.gov/condition/multiple-sclerosis "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)
Ccr5 ISOCCR5 (Homo sapiens)1358460RGDDNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human) 
Ccr5 ISOCCR5 (Homo sapiens)8551829RGDprotein:increased expression:blood, cerebrospinal fluid 
Ccr5 ISOCCR5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple sclerosis modifier of disease progressionPMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627
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