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GENE - TERM ANNOTATION REPORT

RGD ID: 11949981
Species: Pan paniscus
RGD Object: Gene
Symbol: PTPN11
Name: protein tyrosine phosphatase non-receptor type 11
Acc ID: DOID:0060249
Term: scoliosis
Definition: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Scoliosis "DO" "DO", http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 "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)
PTPN11 ISOPTPN11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ScoliosisPMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 PMID:20301557 PMID:21533187 PMID:24033266 PMID:24935154 PMID:25741868 PMID:28492532
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