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GENE - TERM ANNOTATION REPORT

RGD ID: 11814854
Species: Pan paniscus
RGD Object: Gene
Symbol: FBN2
Name: fibrillin 2
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)
FBN2 ISOFBN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorderPMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:19006240 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:28492532 PMID:31316167 PMID:33435129
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