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GENE - TERM ANNOTATION REPORT

RGD ID: 2917
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Insr
Name: insulin receptor
Acc ID: DOID:0050470
Term: Donohue syndrome
Definition: A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Donohue_syndrome "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)
Insr ISOINSR (Homo sapiens)7240710OMIM  
Insr ISOINSR (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18411068
Insr ISOINSR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Donohue syndrome | ClinVar Annotator: match by term: Leprechaunism | ClinVar Annotator: match by term: Leprechaunism syndromePMID:10084586 PMID:10933564 PMID:11463381 PMID:12023989 PMID:12970295 PMID:1315125 PMID:1607067 PMID:1657953 PMID:1730625 PMID:19135752 PMID:2002058 PMID:2040394 PMID:2211730 PMID:22775283 PMID:2300553 PMID:2365819 PMID:23705494 PMID:24033266 PMID:24498630 PMID:2479553 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:2834824 PMID:28492532 PMID:28765322 PMID:29369573 PMID:2983222 PMID:30663027 PMID:31989990 PMID:3280314 PMID:35000900 PMID:7042734 PMID:7657032 PMID:7693131 PMID:7815442 PMID:8101305 PMID:8188715 PMID:8257688 PMID:8314008 PMID:8326490 PMID:8419945 PMID:8432414 PMID:8900242
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