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GENE - TERM ANNOTATION REPORT

RGD ID: 12598175
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Shh
Name: sonic hedgehog signaling molecule
Acc ID: DOID:0111380
Term: solitary median maxillary central incisor
Definition: A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11471164 "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)
Shh ISOSHH (Homo sapiens)7240710OMIM  
Shh ISOSHH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SMMCI SYNDROME | ClinVar Annotator: match by term: Solitary median maxillary central incisor syndromePMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 PMID:15103725 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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