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GENE - TERM ANNOTATION REPORT
RGD ID:
731578
Species:
Mus musculus
RGD Object:
Gene
Symbol:
Fbn1
Name:
fibrillin 1
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 Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
Fbn1
ISO
FBN1 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder
PMID:10229672
PMID:10464652
PMID:11315929
PMID:11524736
PMID:11826022
PMID:11875032
PMID:11933199
PMID:12161601
PMID:12203992
PMID:12402346
PMID:12446365
PMID:12938084
PMID:16220557
PMID:17253931
PMID:17657824
PMID:17663468
PMID:19293843
PMID:19370756
PMID:19533785
PMID:20200614
PMID:20564469
PMID:20979188
PMID:21683322
PMID:21895641
PMID:21907952
PMID:23608731
PMID:23653584
PMID:24033266
PMID:24035709
PMID:24055113
PMID:24311428
PMID:24793577
PMID:24941995
PMID:25637381
PMID:25652356
PMID:25741868
PMID:25812041
PMID:25839328
PMID:25944730
PMID:26269718
PMID:26332594
PMID:26633542
PMID:26684006
PMID:26787436
PMID:27175573
PMID:27245183
PMID:27647783
PMID:28254189
PMID:28492532
PMID:28497567
PMID:28650953
PMID:28941062
PMID:29357934
PMID:29848614
PMID:29875124
PMID:31008308
PMID:31098894
PMID:31211626
PMID:31227806
PMID:31322791
PMID:31730815
PMID:32009526
PMID:32989268
PMID:33064175
PMID:33448881
PMID:34150014
PMID:34550612
PMID:35237611
PMID:8136837
PMID:8188302
PMID:8281141
PMID:8430317
PMID:8563763
PMID:8988160
PMID:9150726
PMID:9338588
PMID:960337
PMID:9876915
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