Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3839296
Disease: Phakomatosis cesiomarmorata
Phakomatosis cesiomarmorata
0.300 SomaticCausalMutation disease ORPHANET Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. 26778290 2016