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GENE - TERM ANNOTATION REPORT

RGD ID: 620908
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Fbn1
Name: fibrillin 1
Acc ID: DOID:9004201
Term: Ectopia Lentis
Definition: Congenital displacement of the lens resulting from defective zonule formation.
Definition Source(s): MESH:D004479
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)1300363RGD  
Fbn1 ISOFBN1 (Homo sapiens)1580380RGDDNA:missense mutation:cds:p.R240C (human) 
Fbn1 ISOFBN1 (Homo sapiens)12904906RGDDNA:missense mutation:exon:p.C102Y (c.305G>A) (human) 
Fbn1 ISOFBN1 (Homo sapiens)12910138RGDDNA:missense mutation:exon:p.Y754C (c.2262A>G) (human) 
Fbn1 ISOFBN1 (Homo sapiens)12910140RGDDNA:missense mutation:exon:p.G214S (G640G>A) (human) 
Fbn1 ISOFBN1 (Homo sapiens)12910479RGDDNA:missense mutation:exon:p.R62C (c.184C>T) (human) 
Fbn1 ISOFBN1 (Homo sapiens)12910481RGDDNA:missense mutation:exon:p.C587R (c.1759T>C) (human) 
Fbn1 ISOFBN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:22772368
Fbn1 ISOFBN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ectopia lentisPMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:26787436 PMID:26875674 PMID:27906200 PMID:27959697 PMID:28492532 PMID:29357934 PMID:29543232 PMID:30796334 PMID:31098894 PMID:31211626 PMID:31227806 PMID:32123317 PMID:37684520 PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9536098 PMID:9837823
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