GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Macrophage Activation Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.020 GeneticVariation disease BEFREE MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling. 26188235 2016
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		0.020 GeneticVariation disease BEFREE MAS is due to activating mutations of GNAS, the gene encoding Gsalpha. 17982386 2007