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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:11984
Term: hypertrophic cardiomyopathy
Definition: An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy "DO" "DO", http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 "DO" "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "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: Hypertrophic cardiomyopathyPMID:11992261 PMID:12058348 PMID:12960218 PMID:14644997 PMID:14961557 PMID:15001945 PMID:15121796 PMID:15385933 PMID:15520399 PMID:15539800 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15987685 PMID:16338218 PMID:16358218 PMID:16377799 PMID:16638574 PMID:17020470 PMID:17339163 PMID:17361219 PMID:17935252 PMID:17972951 PMID:18372317 PMID:18373317 PMID:18759865 PMID:18849586 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19737548 PMID:19825837 PMID:19864201 PMID:20301557 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20883402 PMID:21365175 PMID:21533187 PMID:21706501 PMID:21901340 PMID:21910245 PMID:22190897 PMID:22315187 PMID:22411627 PMID:22488759 PMID:22555271 PMID:22585553 PMID:22681964 PMID:23317994 PMID:23457302 PMID:23584145 PMID:23813970 PMID:24033266 PMID:24037001 PMID:24451042 PMID:24628801 PMID:24767283 PMID:24775816 PMID:24935154 PMID:25097206 PMID:25395418 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25741868 PMID:25741915 PMID:25884655 PMID:25917897 PMID:26337637 PMID:26467025 PMID:26918529 PMID:27069254 PMID:27238887 PMID:27276561 PMID:27484170 PMID:27659786 PMID:28363362 PMID:28492532 PMID:28681392 PMID:29346770 PMID:29493581 PMID:29907801 PMID:30025578 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362
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