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GENE - TERM ANNOTATION REPORT
RGD ID:
2375
Species:
Rattus norvegicus
RGD Object:
Gene
Symbol:
Col2a1
Name:
collagen type II alpha 1 chain
Acc ID:
DOID:9006763
Term:
Stickler Syndrome, Type I, Nonsyndromic Ocular
Definition:
null
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)
Col2a1
ISO
COL2A1 (Homo sapiens)
7240710
OMIM
Col2a1
ISO
COL2A1 (Homo sapiens)
11554173
CTD
CTD Direct Evidence: marker/mechanism
Col2a1
ISO
COL2A1 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: STICKLER SYNDROME, ATYPICAL | ClinVar Annotator: match by term: Stickler syndrome, type I, nonsyndromic ocular
PMID:11007540
PMID:11410667
PMID:15316962
PMID:15671297
PMID:15895462
PMID:16199547
PMID:16752401
PMID:17078022
PMID:17347327
PMID:17721977
PMID:18272325
PMID:18276201
PMID:19344236
PMID:20179744
PMID:20301479
PMID:20513134
PMID:22496037
PMID:22522174
PMID:22574936
PMID:22791362
PMID:25060605
PMID:25504618
PMID:25592122
PMID:25604898
PMID:25741868
PMID:25741869
PMID:26037341
PMID:26358419
PMID:26377240
PMID:26443184
PMID:26467025
PMID:26747767
PMID:27234559
PMID:27390512
PMID:27408751
PMID:28492532
PMID:29453956
PMID:30138938
PMID:30181686
PMID:30792901
PMID:33249554
PMID:34394176
PMID:7695699
PMID:7849719
PMID:7977371
PMID:8218237
PMID:8317498
PMID:8702139
PMID:8723097
PMID:8893763
PMID:9016532
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