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GENE - TERM ANNOTATION REPORT

RGD ID: 730984
Species: Homo sapiens
RGD Object: Gene
Symbol: COL1A2
Name: collagen type I alpha 2 chain
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): https://www.ncbi.nlm.nih.gov/pubmed/3722184 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/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)
COL1A2 IAGP 7240710OMIM  
COL1A2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:25326637 PMID:25741868 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:16705691 PMID:17078022 PMID:19344236 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:27519266 PMID:28492532 PMID:7695699 PMID:8094076 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
COL1A2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:25741868 PMID:26467025 PMID:28492532
COL1A2 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: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:25741868 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:25741868 PMID:26938784
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIAPMID:25741868 PMID:26467025 PMID:27056980 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:21520333 PMID:25741868 PMID:25944380 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:16786509 PMID:25741868 PMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:11317364 PMID:16705691 PMID:17078022 PMID:19344236 PMID:21667357 PMID:25741868 PMID:25944380 PMID:26177859 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:17078022 PMID:19344236 PMID:25741868 PMID:25944380 PMID:26177859 PMID:27519266 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:25741868 PMID:25944380
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:17576681 PMID:28492532 PMID:9536098
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:16786509 PMID:17078022 PMID:19344236 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIAPMID:25741868 PMID:28492532 PMID:30821104
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:16705691 PMID:17078022 PMID:17576681 PMID:19344236 PMID:25741868 PMID:28492532 PMID:30715774 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:17078022 PMID:19344236 PMID:22753364 PMID:25741868 PMID:27748872 PMID:28492532 PMID:29656858 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:16705691 PMID:17078022 PMID:22589248 PMID:25741868 PMID:26307460 PMID:27519266 PMID:28492532 PMID:32659730 PMID:7860070 PMID:9272740 PMID:9594376
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:16705691 PMID:17078022 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25741868 PMID:26371943 PMID:26432670 PMID:28492532 PMID:29150909 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 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) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:25741868
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:10027910 PMID:11317364 PMID:17078022 PMID:18996919 PMID:19344236 PMID:21667357 PMID:25741868 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:17078022 PMID:19344236 PMID:22206639 PMID:22589248 PMID:25741868 PMID:26627451 PMID:27519266 PMID:28492532 PMID:7695699 PMID:8218237 PMID:8829649 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:25741868 PMID:26604951 PMID:28492532
COL1A2 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: Osteogenesis imperfecta, recessive perinatal lethal 
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:15241796 PMID:25741868 PMID:26467025
COL1A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfectaPMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:15241796 PMID:17078022 PMID:19344236 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:21829228 PMID:2952379 PMID:3383844 PMID:8482361
COL1A2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:12362985 PMID:21829228 PMID:27519266 PMID:6191221
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIAPMID:17078022 PMID:19344236 PMID:21488294 PMID:25741868 PMID:26627451 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:38346409
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:11288717 PMID:15077201 PMID:16199547 PMID:28492532 PMID:38346409
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:28492532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:3372533
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:2914942
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:2777764
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:2839839
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:1301191
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:1711048
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:1874719
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:1385413
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:17078022 PMID:19344236 PMID:28492532 PMID:7695699 PMID:7959683 PMID:8218237 PMID:9016532
COL1A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethalPMID:9923651
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