GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Fibrous dysplasia of bone with intramuscular myxoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3697137
Disease: Fibrous dysplasia of bone with intramuscular myxoma
Fibrous dysplasia of bone with intramuscular myxoma 		0.310 GeneticVariation disease BEFREE The study investigated the prevalence of Mazabraud syndrome, the type, severity, and localization of FD lesions in relation to myxomas, the histopathology of myxomas, and results of GNAS-mutation analysis, when available. 30653046 2019
CUI: C3697137
Disease: Fibrous dysplasia of bone with intramuscular myxoma
Fibrous dysplasia of bone with intramuscular myxoma 		0.310 GeneticVariation disease ORPHANET Mazabraud's syndrome. A case with multiple myxomas. 22609175 2012