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GENE - TERM ANNOTATION REPORT

RGD ID: 734049
Species: Homo sapiens
RGD Object: Gene
Symbol: COL1A1
Name: collagen type I alpha 1 chain
Acc ID: DOID:9006782
Term: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1
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 SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
COL1A1 IAGP 7240710OMIM  
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:18272325 PMID:21594610 PMID:25741868 PMID:26467025 PMID:28492532 PMID:8456808
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:11317364 PMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | ClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:25741868 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:18272325 PMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:25741868 PMID:28492532 PMID:30614853 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:17206620 PMID:28436160 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:12362985 PMID:17078022 PMID:19344236 PMID:21667357 PMID:22206639 PMID:23692737 PMID:25741868 PMID:25944380 PMID:26467025 PMID:26627451 PMID:27509835 PMID:27748872 PMID:28492532 PMID:31447884 PMID:7695699 PMID:8218237 PMID:8613526 PMID:9016532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:15024745 PMID:15741671 PMID:25741868 PMID:25944380 PMID:26467025 PMID:27132807 PMID:27748872 PMID:28492532 PMID:7942841 PMID:8613526 PMID:8808594 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:17078022 PMID:19344236 PMID:23692737 PMID:25944380 PMID:27510842 PMID:28492532 PMID:28498836 PMID:7695699 PMID:8218237 PMID:9016532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:25741868 PMID:25944380
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:17576681 PMID:25741868 PMID:25963598 PMID:28492532 PMID:9536098
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:18996919 PMID:20981092 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29595812
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:19491628 PMID:25741868 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:16199547 PMID:22565191 PMID:25741868 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:25741868 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:25741868 PMID:26627451 PMID:28492532 PMID:28725987 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:16199547 PMID:25741868 PMID:26799614 PMID:28492532 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:23692737 PMID:25741868
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:25741868
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:25741868 PMID:25963598
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:15728585 PMID:16407265
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OIEDS SYNDROME 1PMID:11113887 PMID:15024745 PMID:15241796 PMID:17392686 PMID:24767406 PMID:25741868 PMID:26467025 PMID:27044453 PMID:27146342 PMID:28492532 PMID:29499418 PMID:30692697 PMID:30715774 PMID:31304589 PMID:7942841 PMID:9295084 PMID:9443882
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1PMID:17211858 PMID:23265383 PMID:25741868 PMID:28492532
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