KEGG   VARIANT: 79827v1
Entry
79827v1                      Variant                               
Name
CLMP mutation
Type
Loss of function
Gene
CLMP  CXADR like cell adhesion molecule [KO:K06789]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611693
Network
nt06546  IgSF CAM signaling
Disease
H01477  Congenital short bowel syndrome
Reference
  Authors
Van Der Werf CS, Wabbersen TD, Hsiao NH, Paredes J, Etchevers HC, Kroisel PM, Tibboel D, Babarit C, Schreiber RA, Hoffenberg EJ, Vekemans M, Zeder SL, Ceccherini I, Lyonnet S, Ribeiro AS, Seruca R, Te Meerman GJ, van Ijzendoorn SC, Shepherd IT, Verheij JB, Hofstra RM
  Title
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
  Journal
Gastroenterology 142:453-462.e3 (2012)
DOI:10.1053/j.gastro.2011.11.038
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