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GENE - TERM ANNOTATION REPORT

RGD ID: 631372
Species: Rattus norvegicus
RGD Object: Gene
Symbol: MAST1
Name: microtubule associated serine/threonine kinase 1
Acc ID: DOID:0111403
Term: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Definition: A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/30449657 "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)
MAST1 ISOMAST1 (Homo sapiens)7240710OMIM  
MAST1 ISOMAST1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MAST1-related condition | ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformationsPMID:25741868 PMID:28492532 PMID:30449657 PMID:32198973 PMID:32901917
MAST1 ISSMast1 (Mus musculus)13592920MouseDOOMIM:618273 
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