Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

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): https://pubmed.ncbi.nlm.nih.gov/14985377/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/21441247/ "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
Go Back to source page   Continue to Ontology report