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GENE - TERM ANNOTATION REPORT

RGD ID: 18689380
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: HEPACAM
Name: hepatic and glial cell adhesion molecule
Acc ID: DOID:0080316
Term: megalencephalic leukoencephalopathy with subcortical cysts 1
Definition: A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21419380 "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)
HEPACAM ISOHEPACAM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1PMID:25741868 PMID:28492532 PMID:29389947 PMID:29915382
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