GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Osteosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 GeneticVariation disease BEFREE In this case, point mutations of GNAS were found in the FD and osteosarcoma but not in the adjacent normal tissues, suggesting that osteosarcoma was derived from the spindle cells of FD. 29268950 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 GeneticVariation disease BEFREE Our findings therefore support prior observations that GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas. 26248895 2015