KEGG   VARIANT: 4089v1
Entry
4089v1                      Variant                                
Name
SMAD4 mutation
Type
Loss of function
Gene
SMAD4  SMAD family member 4 [KO:K04501]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600993
Network
nt06507  TGFB signaling
Disease
H00533  Hereditary hemorrhagic telangiectasia
H01023  Juvenile polyposis syndrome
H02102  Myhre syndrome
Reference
PMID:25097590
  Authors
Cichy W, Klincewicz B, Plawski A
  Title
Juvenile polyposis syndrome.
  Journal
Arch Med Sci 10:570-7 (2014)
DOI:10.5114/aoms.2014.43750
Reference
PMID:33167572
  Authors
Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M
  Title
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.
  Journal
J Clin Med 9:E3571 (2020)
DOI:10.3390/jcm9113571
Reference
PMID:24580733
  Authors
Le Goff C, Michot C, Cormier-Daire V
  Title
Myhre syndrome.
  Journal
Clin Genet 85:503-13 (2014)
DOI:10.1111/cge.12365
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