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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:14323
Term: Marfan syndrome
Definition: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Definition Source(s): MESH:D008382, https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance, https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807, https://rarediseases.org/rare-diseases/marfan-syndrome/
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: Marfan syndrome, atypical

PMID:15172002, PMID:25741868, PMID:28492532, PMID:2985635, PMID:9399846, PMID:9923651
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.