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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:9000553
Term: Ehlers-Danlos Syndrome, Cardiac Valvular Form
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7309847240710OMIM  
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:225320

PMID:15077201
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:15077201, PMID:3049731, PMID:3383844
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:15077201, PMID:9295084
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID: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
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:16786509, PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:16816023
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:17078022, PMID:19344236, PMID:25741868, PMID:28492532, PMID:7695699, PMID:8218237, PMID:9016532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:17078022, PMID:22589248, PMID:25741868, PMID:28492532, PMID:7860070, PMID:9272740
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:21520333, PMID:25741868, PMID:25944380, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:25741868, PMID:26604951, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

PMID:28492532
 ISORGD:73098411554173CTDCTD Direct Evidence: marker/mechanism

PMID:15077201
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.