GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Pituitary-dependent Cushing's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.020 GeneticVariation disease BEFREE In this study, we screened children with PA for mutations in these genes; somatic GNAS mutations were also studied in a limited number of growth hormone (GH) or prolactin (PRL)-secreting PA. We studied 74 and 6 patients with either isolated Cushing disease (CD) or GH- or PRL-secreting PA, respectively. 20507346 2010
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.020 GeneticVariation disease BEFREE This case adds Cushing's disease to the range of human diseases caused by R201 mutations of the GNAS1 gene. 11836449 2002