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GENE - TERM ANNOTATION REPORT

RGD ID: 11105
Species: Mus musculus
RGD Object: Gene
Symbol: Pkd1
Name: polycystin 1, transient receptor potential channel interacting
Acc ID: DOID:0080468
Term: developmental and epileptic encephalopathy 1
Definition: A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/17668384/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/11889467 "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)
Pkd1 ISOPKD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1PMID:28492532
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