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GENE - TERM ANNOTATION REPORT

RGD ID: 621351
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col1a2
Name: collagen type I alpha 2 chain
Acc ID: DOID:0080730
Term: Ehlers-Danlos syndrome cardiac valvular type
Definition: An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)
Definition Source(s): PMID:16816023 "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 ISOCOL1A2 (Homo sapiens)7240710OMIM  
Col1a2 ISOCOL1A2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15077201
Col1a2 ISOCOL1A2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, cardiac valvular typePMID:11288717 PMID:12362985 PMID:15077201 PMID:15241796 PMID:16199547 PMID:16705691 PMID:16786509 PMID:16816023 PMID:16879195 PMID:17078022 PMID:17576681 PMID:18311573 PMID:19344236 PMID:20301472 PMID:21520333 PMID:21667357 PMID:22589248 PMID:22753364 PMID:24342908 PMID:24501682 PMID:25086671 PMID:25326637 PMID:25436829 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26264438 PMID:26307460 PMID:26371943 PMID:26402641 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27056980 PMID:27509835 PMID:27510842 PMID:27519266 PMID:28378289 PMID:28492532 PMID:29150909 PMID:3049731 PMID:30715774 PMID:30821104 PMID:31218159 PMID:31414283 PMID:31794058 PMID:32166892 PMID:32659730 PMID:32667677 PMID:33110269 PMID:3383844 PMID:33939306 PMID:35052464 PMID:36896471 PMID:36951356 PMID:37079061 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9295084 PMID:9536098 PMID:9594376
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