KEGG   VARIANT: 1910v1
Entry
1910v1                      Variant                                
Name
EDNRB mutation
Type
Loss of function
Gene
EDNRB  endothelin receptor type B isoform 1 precursor [KO:K04198]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 131244
Network
nt06325  Hormone/cytokine signaling
Disease
H00759  Waardenburg syndrome
H00823  ABCD syndrome
H00910  Hirschsprung disease
Reference
PMID:8630502
  Authors
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S
  Title
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
  Journal
Nat Genet 12:442-4 (1996)
DOI:10.1038/ng0496-442
Reference
PMID:8001158
  Authors
Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A
  Title
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
  Journal
Cell 79:1257-66 (1994)
DOI:10.1016/0092-8674(94)90016-7
Reference
PMID:11891690
  Authors
Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
  Title
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
  Journal
Am J Med Genet 108:223-5 (2002)
DOI:10.1002/ajmg.10172
LinkDB

DBGET integrated database retrieval system