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GENE - TERM ANNOTATION REPORT

RGD ID: 61817
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col1a1
Name: collagen type I alpha 1 chain
Acc ID: DOID:0110339
Term: osteogenesis imperfecta type 3
Definition: An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Definition Source(s): PMID:2794057 "DO" "DO", PMID:9099837 "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)
Col1a1 ISOCOL1A1 (Homo sapiens)7240710OMIM  
Col1a1 ISOCOL1A1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Col1a1 ISOCOL1A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III | ClinVar Annotator: match by term: Osteogenesis imperfecta, type III/IVPMID:10408781 PMID:10739762 PMID:10931857 PMID:11113887 PMID:11204438 PMID:11286507 PMID:11317364 PMID:12362985 PMID:12590186 PMID:1445258 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:1634225 PMID:16705691 PMID:16786509 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:1770532 PMID:18272325 PMID:18311573 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18798308 PMID:18845533 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19637253 PMID:2037280 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21834035 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23079818 PMID:23265383 PMID:23529829 PMID:23587214 PMID:23692737 PMID:23729740 PMID:24147872 PMID:24390061 PMID:24486247 PMID:24501682 PMID:24668929 PMID:24767406 PMID:25086671 PMID:2511192 PMID:2542316 PMID:25436829 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:2794057 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28725987 PMID:28810924 PMID:2894346 PMID:29150909 PMID:29499418 PMID:29595812 PMID:29807018 PMID:30131598 PMID:30614853 PMID:30675999 PMID:30684648 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:32627857 PMID:33228694 PMID:33470886 PMID:33928192 PMID:33939306 PMID:34007986 PMID:34902613 PMID:35909573 PMID:36709916 PMID:7691343 PMID:7695699 PMID:7789952 PMID:7881420 PMID:7942841 PMID:8094076 PMID:8100856 PMID:8125479 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8456809 PMID:8613526 PMID:8669434 PMID:8723681 PMID:8786074 PMID:8808594 PMID:8841196 PMID:8910493 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9295084 PMID:9443882 PMID:9535665 PMID:9536098 PMID:9600458
Col1a1 ISSCol1a1 (Mus musculus)13592920MouseDOOMIM:259420 
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