KEGG   VARIANT: 1013v1
Entry
1013v1                      Variant                                
Name
CDH15 mutation
Type
Loss of function
Gene
CDH15  cadherin-15 preproprotein [KO:K06809]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114019
Network
nt06549  Cadherin signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
PMID:19012874
  Authors
Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK
  Title
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
  Journal
Am J Hum Genet 83:703-13 (2008)
DOI:10.1016/j.ajhg.2008.10.020
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