KEGG   VARIANT: 8200v1
Entry
8200v1                      Variant                                
Name
GDF5 mutation
Type
Loss of function
Gene
GDF5  growth differentiation factor 5 [KO:K04664]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601146
Network
nt06507  TGFB signaling
Disease
H00482  Brachydactyly
H00484  Multiple synostosis syndrome
H00851  Proximal symphalangism
H02543  Acromesomelic dysplasia
Reference
  Authors
Gomez-Puerto MC, Iyengar PV, Garcia de Vinuesa A, Ten Dijke P, Sanchez-Duffhues G
  Title
Bone morphogenetic protein receptor signal transduction in human disease.
  Journal
J Pathol 247:9-20 (2019)
DOI:10.1002/path.5170
Reference
  Authors
Wu M, Chen G, Li YP
  Title
TGF-beta and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease.
  Journal
Bone Res 4:16009 (2016)
DOI:10.1038/boneres.2016.9
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