EDNRA, endothelin receptor type A, 1909

N. diseases: 427; N. variants: 29
Disease: Acrodysostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		0.020 Biomarker disease BEFREE Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients. 23043190 2012
CUI: C0220659
Disease: Acrodysostosis
Acrodysostosis 		0.020 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