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GENE - TERM ANNOTATION REPORT

RGD ID: 3673
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Shh
Name: sonic hedgehog signaling molecule
Acc ID: DOID:9006637
Term: Schizencephaly
Definition: Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes.
Definition Source(s): MESH:D065707
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)
Shh ISOSHH (Homo sapiens)7240710OMIM  
Shh ISOSHH (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Shh ISOSHH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SchizencephalyPMID:10556296 PMID:12709790 PMID:15292211 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:32939873 PMID:9302262
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