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GENE - TERM ANNOTATION REPORT

RGD ID: 62109
Species: Mus musculus
RGD Object: Gene
Symbol: Col1a1
Name: collagen, type I, alpha 1
Acc ID: DOID:0110341
Term: osteogenesis imperfecta type 2
Definition: An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Definition Source(s): PMID:3722184 "DO" "DO", PMID:6304100 "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 II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:10739762 PMID:10931857 PMID:11113887 PMID:11204438 PMID:11317364 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:1511982 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:1613761 PMID:16199547 PMID:1634225 PMID:16786509 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:1770532 PMID:18272325 PMID:18311573 PMID:18412368 PMID:18553566 PMID:1864604 PMID:18670065 PMID:18704262 PMID:1874719 PMID:18798308 PMID:18845533 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19637253 PMID:20301472 PMID:2035536 PMID:2037280 PMID:20981092 PMID:2121988 PMID:21239989 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21834035 PMID:22206639 PMID:2220807 PMID:22570641 PMID:22589248 PMID:22753364 PMID:22855962 PMID:2298750 PMID:23079818 PMID:2309707 PMID:23265383 PMID:2339700 PMID:23587214 PMID:23692737 PMID:24147872 PMID:24390061 PMID:24486247 PMID:24668929 PMID:24767406 PMID:2500431 PMID:25086671 PMID:2542316 PMID:25436829 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26264579 PMID:26467025 PMID:26627451 PMID:26863094 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:2794057 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28498836 PMID:28528406 PMID:28725987 PMID:28810924 PMID:2894346 PMID:2913053 PMID:29150909 PMID:29432813 PMID:29499418 PMID:29595812 PMID:29807018 PMID:3016737 PMID:30266093 PMID:30311386 PMID:30614853 PMID:30692697 PMID:30715774 PMID:3108247 PMID:31239369 PMID:31304589 PMID:31349857 PMID:31447884 PMID:3198624 PMID:32166892 PMID:32860008 PMID:33228694 PMID:33470886 PMID:33928192 PMID:33939306 PMID:3403550 PMID:34902613 PMID:35909573 PMID:3667599 PMID:36709916 PMID:3722184 PMID:38346409 PMID:6702894 PMID:7691343 PMID:7695699 PMID:7816518 PMID:7881420 PMID:7942841 PMID:8097422 PMID:8100209 PMID:8100856 PMID:8218237 PMID:8364588 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:8841196 PMID:8950680 PMID:9016532 PMID:9067755 PMID:9101304 PMID:9143923 PMID:9295084 PMID:9443882 PMID:9535665 PMID:9536098
Col1a1 IAGP 13592920MouseDOOMIM:166210 
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