GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014803
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 		0.010 GeneticVariation disease BEFREE Activating somatic mutations of the GNAS gene (known as gsp oncogene) which encodes the stimulatory G protein alpha-subunit (Gsα) have been found in a small number of adrenocortical secreting adenomas and rarely in PMAH. 30075949 2018