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GENE - TERM ANNOTATION REPORT

RGD ID: 70495
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Map2k1
Name: mitogen activated protein kinase kinase 1
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Map2k1 ISOMAP2K1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16439621 PMID:17703371
Map2k1 ISOMAP2K1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndromePMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18039235 PMID:1804226 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:20354455 PMID:21062266 PMID:21107320 PMID:22177953 PMID:22197931 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24458522 PMID:24637312 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25423878 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26795593 PMID:27862862 PMID:28049852 PMID:28492532 PMID:29402968 PMID:29493581 PMID:29643386 PMID:29753091 PMID:29907801 PMID:30087384 PMID:30141192 PMID:30763456 PMID:31487502 PMID:31942422 PMID:31972311 PMID:32005694 PMID:32978145 PMID:33482860
Map2k1 ISSMap2k1 (Mus musculus)13592920MouseDO  
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