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GENE - TERM ANNOTATION REPORT

RGD ID: 12416790
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: DEPDC5
Name: DEP domain containing 5, GATOR1 subcomplex subunit
Acc ID: DOID:9004554
Term: Developmental and Epileptic Encephalopathy 111
Definition: An autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Caused by homozygous mutation in the DEPDC5 gene on chromosome 22q12.
Definition Source(s): OMIM:620504
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)
DEPDC5 ISODEPDC5 (Homo sapiens)7240710OMIM  
DEPDC5 ISODEPDC5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DEPDC5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 111PMID:17576681 PMID:23542697 PMID:23542701 PMID:24283814 PMID:25741868 PMID:26467025 PMID:26505888 PMID:26704558 PMID:27066554 PMID:28492532 PMID:29057844 PMID:29358611 PMID:30093711 PMID:31639411 PMID:9536098
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