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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:0000508
Term: Ptosis
Definition: The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Definition Source(s): PMID:19125427
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 1601571RGDDNA:missense mutations:exons:p.Y279C, p.T468M 
PTPN11 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ptosis

PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362
PTPN11 IAGP 8699517HPO OMIM:151100
PTPN11 IAGP 8699517HPO OMIM:163950
PTPN11 IAGP 8699517HPO ORPHA:500
PTPN11 IAGP 8699517HPO ORPHA:648
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