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GENE - TERM ANNOTATION REPORT

RGD ID: 12726557
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Ptpn11
Name: protein tyrosine phosphatase non-receptor type 11
Acc ID: DOID:9002453
Term: Cafe-au-Lait Spots
Definition: Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Definition Source(s): MESH:D019080
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: Cafe-au-lait spotPMID: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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