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GENE - TERM ANNOTATION REPORT

RGD ID: 1558370
Species: Mus musculus
RGD Object: Gene
Symbol: Flna
Name: filamin, alpha
Acc ID: DOID:2256
Term: osteochondrodysplasia
Definition: A bone development disease that results_in defective development of cartilage or bone. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Osteochondrodysplasia "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)
Flna ISOFLNA (Homo sapiens)1598954RGDMelnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human) 
Flna ISOFLNA (Homo sapiens)11565455RGDassociated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human) 
Flna ISOFLNA (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12612583
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