Disease: Melorheostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		0.040 GeneticVariation disease BEFREE Recent studies of melorheostosis lesional tissue indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways, such as KRAS. 30989250 2019
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		0.040 GeneticVariation disease BEFREE Somatic activating mutations in MAP2K1 have recently been identified as a cause of melorheostosis. 30667555 2019
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		0.040 Biomarker disease BEFREE The identification of a distinct phenotype of patients with MAP2K1-positive melorheostosis demonstrates clinical and genetic heterogeneity among patients with the disease. 30138550 2019
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		0.040 Biomarker disease BEFREE Our data show that the MAP2K1 oncogene is important in human bone formation and implicate MEK1 inhibition as a potential treatment avenue for melorheostosis. 29643386 2018