KEGG   VARIANT: 4149v1
Entry
4149v1                      Variant                                
Name
MAX mutation
Gene
MAX  MYC associated factor X [KO:K04453]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 154950
Network
nt06523  Epigenetic regulation by Polycomb complexes
nt06526  MAPK signaling
Disease
H01510  Malignant paraganglioma
Reference
  Authors
Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, Leton R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gomez-Grana A, de Cubas AA, Inglada-Perez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernandez-Lavado R, Diaz JA, Gomez-Morales M, Gonzalez-Neira A, Roncador G, Rodriguez-Antona C, Benitez J, Mannelli M, Opocher G, Robledo M, Cascon A
  Title
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
  Journal
Nat Genet 43:663-7 (2011)
DOI:10.1038/ng.861
LinkDB

DBGET integrated database retrieval system