APRT, adenine phosphoribosyltransferase, 353

N. diseases: 384; N. variants: 12
Disease: Primary Pigmented Nodular Adrenal Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		0.020 AlteredExpression disease BEFREE Inactivation of the human type Ialpha regulatory subunit (RIalpha) of cyclic AMP dependent protein kinase (PKA) (PRKAR1A) leads to altered kinase activity, primary pigmented nodular adrenocortical disease (PPNAD), and sporadic adrenal and other tumours. 15591278 2004
CUI: C4331029
Disease: Primary Pigmented Nodular Adrenal Dysplasia
Primary Pigmented Nodular Adrenal Dysplasia 		0.020 GeneticVariation disease BEFREE Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. 12424709 2002