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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:65
Term: connective tissue disease
Definition: A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
Definition Source(s): MESH:D003240, http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp
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 term: Connective tissue disorder

PMID:15172002, PMID:25741868, PMID:28492532, PMID:2985635, PMID:9399846, PMID:9923651
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Connective tissue disorder

PMID:25741868
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Connective tissue disorder

PMID:25741868, PMID:25944380, PMID:26467025, PMID:28492532
 ISORGD:7309848554872ClinVarClinVar Annotator: match by term: Connective tissue disorder

PMID:25741868, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.