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GENE - TERM ANNOTATION REPORT

RGD ID: 12451457
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Klk4
Name: kallikrein related peptidase 4
Acc ID: DOID:0110057
Term: amelogenesis imperfecta type 2A1
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15235027 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23355523 "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)
Klk4 ISOKLK4 (Homo sapiens)7240710OMIM  
Klk4 ISOKLK4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1PMID:15235027 PMID:204700 PMID:21597265 PMID:23355523 PMID:25741868 PMID:28611678
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