GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Endocrine System Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.320 GeneticVariation group BEFREE GNAS mutations have been implicated in the development of fibrous dysplasia and multiple endocrinopathies of the Albright-McCune syndrome. 22245114 2012
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.320 GeneticVariation group BEFREE McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait pigmented skin lesions and endocrinopathy (1,2) The molecular lesion in MAS is a postzygotic mutation in the GNAS gene that leads to activation of Gsalpha, the alpha chain of the heterotrimeric G protein, Gsalpha. 17982384 2007
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.320 Biomarker group CTD_human Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 1594625 1992
CUI: C0014130
Disease: Endocrine System Diseases
Endocrine System Diseases 		0.320 Biomarker group CTD_human Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 1944469 1991