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GENE - TERM ANNOTATION REPORT

RGD ID: 2199
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bcl2
Name: BCL2, apoptosis regulator
Acc ID: DOID:0080138
Term: multiple congenital anomalies-hypotonia-seizures syndrome 1
Definition: A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21493957 "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)
Bcl2 ISOBCL2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1PMID:10677500 PMID:18606301 PMID:22271396 PMID:24253414 PMID:27038415 PMID:28492532
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