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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:13359
Term: Ehlers-Danlos syndrome
Definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome "DO" "DO", http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 "DO" "DO", http://www.merriam-webster.com/medlineplus/ehlers-Danlos "DO" "DO", http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html "DO" "DO", https://www.ehlers-danlos.com/what-is-eds/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23711271 "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 (Mus musculus)11571617RGDDNA:transition mutation:splice junction: 
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)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:16474405 PMID:16773572 PMID:16879195 PMID:17056636 PMID:25525159 PMID:25741868 PMID:25963598 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:18272325 PMID:21594610 PMID:25741868 PMID:26467025 PMID:28492532 PMID:8456808
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:15741671 PMID:16786509 PMID:18028452 PMID:19550437 PMID:20696291 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29946973 PMID:8079666
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:26467025 PMID:27380894 PMID:28492532 PMID:28748566
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:11317364 PMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:18272325 PMID:18996919 PMID:25741868 PMID:26467025 PMID:28492532 PMID:7691343
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:15741671 PMID:17078022 PMID:19344236 PMID:19751715 PMID:2238087 PMID:22753364 PMID:24668929 PMID:25741868 PMID:25944380 PMID:27510842 PMID:28492532 PMID:30715774 PMID:30886339 PMID:31299979 PMID:32981126 PMID:33939306 PMID:7691343 PMID:7695699 PMID:8218237 PMID:8799376 PMID:9016532
COL1A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:18272325 PMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:17078022 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) 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) 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) 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: Ehlers-Danlos syndromePMID:25741868 PMID:28492532
COL1A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:21884818 PMID:25741868 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:11090261 PMID:18996919 PMID:25741868 PMID:26467025 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:27519266 PMID:28492532 PMID:32166892 PMID:34422331 PMID:34426522
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25146735 PMID:25741868 PMID:26188975 PMID:26235824 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:21667357 PMID:25741868 PMID:27519266 PMID:28492532 PMID:30715774
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:26633542 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:17576681 PMID:25741868 PMID:25963598 PMID:28492532 PMID:9536098
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:28492532 PMID:35128800
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
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) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868
COL1A1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:10739762 PMID:17211858 PMID:23587214 PMID:25597651 PMID:25741868 PMID:28102596 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:27011056 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:25741868 PMID:28492532 PMID:29543232 PMID:30665703
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:16786509 PMID:25741868 PMID:28492532 PMID:29543232 PMID:31584903
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:11432962 PMID:24147872 PMID:25741868 PMID:28492532
COL1A1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndromePMID:17211858 PMID:23265383 PMID:25741868 PMID:28492532
COL1A1 ISSCol1a1 (Mus musculus)13592920MouseDOOMIM:225400 
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