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GENE - TERM ANNOTATION REPORT

RGD ID: 1582973
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Piezo2
Name: piezo-type mechanosensitive ion channel component 2
Acc ID: DOID:0111607
Term: distal arthrogryposis type 3
Definition: A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)
Definition Source(s): PMID:19571066 "DO" "DO", PMID:24726473 "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)
Piezo2 ISOPIEZO2 (Homo sapiens)7240710OMIM  
Piezo2 ISOPIEZO2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndromePMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:30988732 PMID:31680123 PMID:36474027 PMID:39033378 PMID:8423615
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