KEGG   VARIANT: 2200v1
Entry
2200v1                      Variant                                
Name
FBN1 mutation
Type
Loss of function
Gene
FBN1  fibrillin 1 [KO:K06825]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134797
Network
nt06507  TGFB signaling
nt06539  Cytoskeleton in muscle cells
Disease
H00653  Marfan syndrome
H00673  Weill-Marchesani syndrome
H00900  Geleophysic dysplasia
H01173  Stiff skin syndrome
H02228  Acromicric dysplasia
Reference
PMID:30037098
  Authors
Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I
  Title
TGF-beta Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections.
  Journal
Int J Mol Sci 19:E2125 (2018)
DOI:10.3390/ijms19072125
Reference
PMID:11836357
  Authors
Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ
  Title
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
  Journal
J Med Genet 39:98-104 (2002)
DOI:10.1136/jmg.39.2.98
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