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GENE - TERM ANNOTATION REPORT

RGD ID: 1557767
Species: Mus musculus
RGD Object: Gene
Symbol: Myo7b
Name: myosin VIIB
Acc ID: DOID:0111909
Term: autosomal dominant thrombophilia due to protein C deficiency
Definition: A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2437584/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/6547008/ "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)
Myo7b ISOMYO7B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominantPMID:17152060 PMID:28492532 PMID:3185623
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