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GENE - TERM ANNOTATION REPORT

RGD ID: 2981
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kras
Name: KRAS proto-oncogene, GTPase
Acc ID: DOID:3490
Term: Noonan syndrome
Definition: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition "DO" "DO", https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome "DO" "DO", https://www.genome.gov/Genetic-Disorders/Noonan-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)
Kras ISOKRAS (Homo sapiens)1600472RGDNoonan syndrome type 3, OMIM:609942 
Kras ISOKras (Mus musculus)11060134RGDDNA:missense mutation:exon:p.V14I (mouse) 
Kras ISOKRAS (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17468812 PMID:17603482 PMID:17603483 PMID:17703371
Kras ISOKRAS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndromePMID:10590419 PMID:10681080 PMID:12110640 PMID:12460918 PMID:14982869 PMID:16361624 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:16921267 PMID:16987887 PMID:17056636 PMID:17211612 PMID:17324647 PMID:17384584 PMID:17468812 PMID:17551339 PMID:17601930 PMID:17704260 PMID:17875937 PMID:17875939 PMID:17994553 PMID:18316791 PMID:18386799 PMID:18456719 PMID:18509354 PMID:18628094 PMID:18794081 PMID:18922928 PMID:18958496 PMID:19020799 PMID:19114683 PMID:19255327 PMID:19396835 PMID:19679400 PMID:19773371 PMID:20112233 PMID:20186801 PMID:20526288 PMID:20652921 PMID:20921462 PMID:20921465 PMID:20926413 PMID:20949621 PMID:21062266 PMID:21228335 PMID:21686179 PMID:21779504 PMID:21784453 PMID:21871821 PMID:21909114 PMID:22211815 PMID:22250184 PMID:22488932 PMID:22495831 PMID:22980975 PMID:23321623 PMID:23406027 PMID:23531339 PMID:23548132 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24382853 PMID:24703799 PMID:24803665 PMID:25157968 PMID:25326637 PMID:25359213 PMID:25741868 PMID:26037647 PMID:26242988 PMID:26985062 PMID:28492532 PMID:28650561 PMID:29402968 PMID:29493581 PMID:29758562 PMID:29948256 PMID:30415384 PMID:30732632 PMID:31117243 PMID:32078254 PMID:33452774 PMID:8234268 PMID:8246952
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