KEGG   VARIANT: 50940v1
Entry
50940v1                      Variant                               
Name
PDE11A
Gene
PDE11A  phosphodiesterase 11A [KO:K13298]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R307Ter
ClinVar: 5286
dbSNP: rs76308115
Variation
mutation S313Qfs
ClinVar: 225431
dbSNP: rs769235876
Variation
mutation S160Ter
ClinVar: 225433
dbSNP: rs771254675
Variation
mutation S79Ter
ClinVar: 225434
dbSNP: rs188985665
Variation
mutation R7Tfs
ClinVar: 225432
dbSNP: rs202117698
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
  Element
N00323  Mutation-inactivated PDE11A/PDE8B to ACTH-cortisol signaling pathway
Reference
  Authors
Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA
  Title
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
  Journal
Nat Genet 38:794-800 (2006)
DOI:10.1038/ng1809
LinkDB

KEGG   VARIANT: 8622v1
Entry
8622v1                      Variant                                
Name
PDE8B mutation
Gene
PDE8B  phosphodiesterase 8B [KO:K18437]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation H305P
ClinVar: 6390
dbSNP: rs121918360
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
  Element
N00323  Mutation-inactivated PDE11A/PDE8B to ACTH-cortisol signaling pathway
Reference
  Authors
Bonnet-Serrano F, Bertherat J
  Title
Genetics of tumors of the adrenal cortex.
  Journal
Endocr Relat Cancer 25:R131-R152 (2018)
DOI:10.1530/ERC-17-0361
Reference
  Authors
Horvath A, Mericq V, Stratakis CA
  Title
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.
  Journal
N Engl J Med 358:750-2 (2008)
DOI:10.1056/NEJMc0706182
LinkDB

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