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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:4253
Term: melorheostosis
Definition: An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Melorheostosis "DO" "DO", http://www.melorheostosis.com/ "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)7240710OMIM  
Map2k1 ISOMAP2K1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Map2k1 ISOMAP2K1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: MelorheostosisPMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 PMID:17551924 PMID:17567882 PMID:17704260 PMID:17981815 PMID:18042262 PMID:18060073 PMID:18413255 PMID:18632602 PMID:18854871 PMID:19156172 PMID:19344873 PMID:19376813 PMID:19411838 PMID:19915144 PMID:20301365 PMID:22177953 PMID:22327936 PMID:22848035 PMID:23093928 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24101678 PMID:24236184 PMID:24637312 PMID:25049390 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26350204 PMID:26795593 PMID:27862862 PMID:28492532 PMID:29402968 PMID:29643386 PMID:30087384 PMID:30763456 PMID:31487502 PMID:31942422 PMID:7651428
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