GENE - TERM ANNOTATION REPORT

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, http://en.wikipedia.org/wiki/Scoliosis, http://ghr.nlm.nih.gov/glossary=scoliosis, http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140
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

 
Go Back to source page   Continue to Ontology report

NHLBI Logo

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