Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
0.010 GeneticVariation disease BEFREE In rare cases, LEMD3 mutations and recently mosaic MAP2K1 gene mutations have been correlated to MEL suggesting that somatic mosaicism could be causative of the disease. 31129707 2019