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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: HP:0004322
Term: Short stature
Definition: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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 1581292RGDDNA:missense mutations:cds:multiple  
PTPN11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Short stature

PMID: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 stature

PMID: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 stature

PMID: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
PTPN11 IAGP 8699517HPO OMIM:151100
PTPN11 IAGP 8699517HPO OMIM:163950
PTPN11 IAGP 8699517HPO ORPHA:500
PTPN11 IAGP 8699517HPO ORPHA:648
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