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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:9003010
Term: Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
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:7309848554872ClinVarClinVar Annotator: match by OMIM:130060

 
 ISORGD:7309848554872ClinVarClinVar Annotator: match by OMIM:130060

PMID:25741868
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:10976985, PMID:11317364, PMID:26467025
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:18272325, PMID:25633413, PMID:25835785, PMID:26467025, PMID:8456808
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:18996919, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:24033266, PMID:25741868, PMID:26467025
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:25741868, PMID:26467025
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:25741868, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:26467025
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:26467025, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type

PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7B

PMID:11288717, PMID:15077201, PMID:16816023, PMID:27510842, PMID:28492532, PMID:2993307, PMID:3372533, PMID:6092353
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7B

PMID:1556139
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7B

PMID:1577745, PMID:1712342, PMID:1990839, PMID:3621666, PMID:3733683, PMID:7864655
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7B

PMID:2454224, PMID:28492532, PMID:3680255, PMID:6773953, PMID:8081389
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7B

PMID:2777808, PMID:4742738
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7B

PMID:2993307
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.