GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Acromegaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1290398674
rs1290398674
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0001206
Disease:
Acromegaly 		0.010 GeneticVariation BEFREE Recent studies have identified L206R mutations in the alpha catalytic subunit of protein kinase A (PRKACA) in cortisol-producing adrenocortical adenomas and amplification of the beta catalytic subunit of protein kinase A PRKACB in acromegaly associated with Carney complex. 25225481 2014