PDE11A, phosphodiesterase 11A, 50940

N. diseases: 4; N. variants: 14
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2 ×
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs188985665
rs188985665 		1.000 0.040 2 178014388 stop gained G/A snv 2.7E-04 4.4E-04
CUI: C1864851
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 2 		Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs202117698
rs202117698 		1.000 0.040 2 178104443 frameshift variant CT/- delins 3.0E-03 2.6E-03
CUI: C1864851
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 2 		Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs769235876
rs769235876 		1.000 0.040 2 177697405 frameshift variant ACAGG/- delins 9.6E-05 2.8E-05
CUI: C1864851
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 2 		Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs771254375
rs771254375 		1.000 0.040 2 177728150 stop gained G/C snv 1.1E-04
CUI: C1864851
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 2 		Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs76308115
rs76308115 		0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03
CUI: C1864851
Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Nodular Adrenocortical Disease, Primary, 2 		Endocrine System Diseases 0.700 0