KEGG   VARIANT: 1457v1
Entry
1457v1                      Variant                                
Name
CSNK2A1 mutation
Gene
CSNK2A1  casein kinase 2 alpha 1 [KO:K03097]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 115440
Network
nt06512  Chromosome cohesion and segregation
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Reference
PMID:27048600
  Authors
Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK
  Title
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
  Journal
Hum Genet 135:699-705 (2016)
DOI:10.1007/s00439-016-1661-y
LinkDB

DBGET integrated database retrieval system