KEGG   VARIANT: 25v3
Entry
25v3                      Variant                                  
Name
ABL1 gain-of-function mutation
Type
Gain of function
Gene
ABL1  ABL proto-oncogene 1, non-receptor tyrosine kinase [KO:K06619]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 189980
Network
nt06546  IgSF CAM signaling
Disease
H02982  Congenital heart defects and skeletal malformations syndrome
Reference
  Authors
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y
  Title
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
  Journal
Nat Genet 49:613-617 (2017)
DOI:10.1038/ng.3815
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