CRRD ID: 620908
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Fbn1
Name: fibrillin 1
Acc ID: DOID:0060249
Term: scoliosis
Definition: An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
Definition Source(s): MESH:D012600,,,
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:7315778554872ClinVarClinVar Annotator: match by term: Scoliosis

 ISOCRRD:7315778554872ClinVarClinVar Annotator: match by term: Scoliosis

PMID:10464652, PMID:11700157, PMID:11933199, PMID:12203987, PMID:12203992, PMID:12938084, PMID:14695540, PMID:15241795, PMID:17627385, PMID:17657824, PMID:19159394, PMID:19293843, PMID:21907952, PMID:24033266, PMID:24161884, PMID:24833718, PMID:25741868, PMID:26333736, PMID:27146836, PMID:27611364, PMID:27724990, PMID:28492532, PMID:28855619, PMID:30675029
 ISOCRRD:73157712910484CRRDDNA:missense mutations:exon:multiple

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.