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RGD ID: 1594557
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cfp
Name: complement factor properdin
Acc ID: DOID:0112122
Term: X-linked epilepsy with variable learning disabilities and behavior disorders
Definition: An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)
Definition Source(s): "DO" "DO", "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)
Cfp ISOCFP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndromePMID:14985377 PMID:21441247 PMID:28492532
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