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GENE - TERM ANNOTATION REPORT

RGD ID: 10493
Species: Mus musculus
RGD Object: Gene
Symbol: Dspp
Name: dentin sialophosphoprotein
Acc ID: DOID:4154
Term: dentinogenesis imperfecta
Definition: A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19021896/ "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)
Dspp IEP 734904RGDmRNA:decreased expression:incisor, molar (mouse) 
Dspp ISODSPP (Homo sapiens)12910984RGDDNA:snp:intron:g.87612175G>A (human) 
Dspp ISODSPP (Homo sapiens)7240710OMIM  
Dspp ISODSPP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Dspp ISODSPP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentinPMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 PMID:18456718 PMID:19131317 PMID:22243242 PMID:22392858 PMID:25741868 PMID:27993330 PMID:28492532
Dspp IAGP 13592920MouseDOOMIM:125490 | OMIM:125500 
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