Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 2416
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Crybb1
Name: crystallin, beta B1
Acc ID: DOID:83
Term: cataract
Definition: A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cataract "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/10414631 "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)
Crybb1 ISOCRYBB1 (Homo sapiens)728217RGDDNA:nonsense mutation:cds:p.G220X (human) 
Crybb1 ISOCRYBB1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12360425
Crybb1 ISOCRYBB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital cataractPMID:25741868 PMID:26694549 PMID:28272538
Go Back to source page   Continue to Ontology report