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GENE - TERM ANNOTATION REPORT

RGD ID: 731746
Species: Homo sapiens
RGD Object: Gene
Symbol: PTPN11
Name: protein tyrosine phosphatase non-receptor type 11
Acc ID: DOID:9007661
Term: Dwarfism
Definition: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Definition Source(s): MESH:D004392
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 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short staturePMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18562489 PMID:19008228 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21365683 PMID:22371576 PMID:22420426 PMID:23321623 PMID:24033266 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27069254 PMID:27276561 PMID:28492532
PTPN11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short staturePMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581
PTPN11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short staturePMID:11704759 PMID:11992261 PMID:12717436 PMID:15928039 PMID:16263833 PMID:16377799 PMID:18470943 PMID:18562489 PMID:19795160 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30325180 PMID:33726816
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