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GENE - TERM ANNOTATION REPORT

RGD ID: 12349413
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: KRAS
Name: KRAS proto-oncogene, GTPase
Acc ID: DOID:0060233
Term: cardiofaciocutaneous syndrome
Definition: A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract "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.
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