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GENE - TERM ANNOTATION REPORT

RGD ID: 731578
Species: Mus musculus
RGD Object: Gene
Symbol: Fbn1
Name: fibrillin 1
Acc ID: DOID:65
Term: connective tissue disease
Definition: A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)
Definition Source(s): http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "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)
Fbn1 ISOFBN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorderPMID:10229672 PMID:10464652 PMID:11315929 PMID:11524736 PMID:11826022 PMID:11875032 PMID:11933199 PMID:12161601 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:16220557 PMID:17253931 PMID:17657824 PMID:17663468 PMID:19293843 PMID:19370756 PMID:19533785 PMID:20200614 PMID:20564469 PMID:20979188 PMID:21683322 PMID:21895641 PMID:21907952 PMID:23608731 PMID:23653584 PMID:24033266 PMID:24035709 PMID:24055113 PMID:24311428 PMID:24793577 PMID:24941995 PMID:25637381 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25839328 PMID:25944730 PMID:26269718 PMID:26332594 PMID:26633542 PMID:26684006 PMID:26787436 PMID:27175573 PMID:27245183 PMID:27647783 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28650953 PMID:28941062 PMID:29357934 PMID:29848614 PMID:29875124 PMID:31008308 PMID:31098894 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31730815 PMID:32009526 PMID:32989268 PMID:33064175 PMID:33448881 PMID:34150014 PMID:34550612 PMID:35237611 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8988160 PMID:9150726 PMID:9338588 PMID:960337 PMID:9876915
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