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GENE - TERM ANNOTATION REPORT

RGD ID: 18523466
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: PRF1
Name: perforin 1
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)
PRF1 ISOPRF1 (Homo sapiens)9068941RGDDNA:SNPs:introns:c.-5+321C>T, c.539+82C>T (rs3758562, rs10999426) (human)PMID:20921521 REF_RGD_ID:6482820
PRF1 ISOPRF1 (Homo sapiens)9068941RGDprotein:increased expression:blood, T cellPMID:22001684 REF_RGD_ID:6482817
PRF1 ISOPrf1 (Mus musculus)9068941RGD PMID:19680139 REF_RGD_ID:6482805
PRF1 ISOPrf1 (Mus musculus)9068941MouseDOOMIM:126200 | OMIM:612594 | OMIM:612595 | OMIM:612596 | OMIM:614810 
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