GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Acrodysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		0.010 GeneticVariation disease BEFREE Recently, mutations of PRKAR1A and PDE4D downstream of GNAS on the cAMP-mediated G protein-coupled receptor (GPCR) signaling cascade have been identified in acrodysostosis with and without hormone resistance, although functional studies have been performed only for p.R368X of PRKAR1A. 22723333 2012