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GENE - TERM ANNOTATION REPORT

RGD ID: 11865837
Species: Pan paniscus
RGD Object: Gene
Symbol: FAM20A
Name: FAM20A golgi associated secretory pathway pseudokinase
Acc ID: DOID:0110066
Term: amelogenesis imperfecta type 1G
Definition: An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23468644 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24196488 "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)
FAM20A ISOFAM20A (Homo sapiens)7240710OMIM  
FAM20A ISOFAM20A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amelogenesis imperfecta type 1G | ClinVar Annotator: match by term: Generalized enamel hypoplasia and renal dysfunctionPMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:25741905 PMID:28086997 PMID:28492532 PMID:32246227
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