Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. 26405036

2015
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT Novel mutations of the PRKAR1A gene in patients with acrodysostosis. 23425300

2013
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. 22723333

2012
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 23043190

2012
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT Exome sequencing identifies PDE4D mutations in acrodysostosis. 22464252

2012
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 22464250

2012
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
0.800 GeneticVariation UNIPROT Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. 21651393

2011
dbSNP: rs387906694
rs387906694
PRKAR1A ; FAM20A
C 0.800 CausalMutation CLINVAR