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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:0111683
Term: neurofibromatosis-Noonan syndrome
Definition: A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12707950 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2411134 "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: Neurofibromatosis-Noonan syndromePMID:22465605 PMID:28074573 PMID:28492532
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