SLC8A1, solute carrier family 8 member A1, 6546

N. diseases: 146; N. variants: 24
Disease: Cushing Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		0.010 GeneticVariation disease BEFREE One of the putative CNC genes located on 17q22-24, (PRKAR1A), has been identified to encode the regulatory subunit (R1A) of protein kinase A. Heterozygous inactivating mutations of PRKAR1A were reported initially in 45 to 65% of CNC index cases, and may be present in about 80% of the CNC families presenting mainly with Cushing's syndrome. 16756677 2006