KEGG   VARIANT: 1280v1
Entry
1280v1                      Variant                                
Name
COL2A1 mutation
Type
Loss of function
Gene
COL2A1  collagen type II alpha 1 chain [KO:K19719]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120140
Network
nt06548  Integrin signaling
Disease
H00445  Osteoarthritis with mild chondrodysplasia
H00476  Multiple epiphyseal dysplasia
H00519  Spondyloepiphyseal dysplasia congenita
H00520  Type II collagenopathies
H01526  Legg-Calve-Perthes Disease
H01529  Avascular necrosis of femoral head
H02066  Achondrogenesis type II
H02070  Kniest dysplasia
H02071  Czech dysplasia
H02072  Stickler syndrome
H02185  Spondylometaphyseal dysplasia
H02187  Spondyloepimetaphyseal dysplasia
Reference
PMID:27234559
  Authors
Deng H, Huang X, Yuan L
  Title
Molecular genetics of the COL2A1-related disorders.
  Journal
Mutat Res Rev Mutat Res 768:1-13 (2016)
DOI:10.1016/j.mrrev.2016.02.003
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