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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8556884
Species: Homo sapiens
RGD Object: Variant
Symbol: CV17590
Name: NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
CV17590 IAGP 8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10090880 PMID:10364520 PMID:10842288 PMID:15951859 PMID:16802374 PMID:17566872 PMID:18097735 PMID:19253030 PMID:19449169 PMID:19934083 PMID:19934105 PMID:20041150 PMID:20981092 PMID:21413889 PMID:22467954 PMID:22906030 PMID:22975760 PMID:22995991 PMID:23291246 PMID:23302539 PMID:23400211 PMID:23524442 PMID:23847694 PMID:23907647 PMID:23981758 PMID:24082139 PMID:24797171 PMID:24965843 PMID:25615955 PMID:25703702 PMID:25708585 PMID:25741868 PMID:25959027 PMID:26027984 PMID:26360812 PMID:26467025 PMID:27473114 PMID:27535533 PMID:27659338 PMID:27884173 PMID:28001092 PMID:28492532 PMID:28573371 PMID:28927886 PMID:29148036 PMID:29178647 PMID:29526930 PMID:30407166 PMID:31411330 PMID:31531243 PMID:31620089
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