KEGG   VARIANT: 1298v1
Entry
1298v1                      Variant                                
Name
COL9A2 mutation
Gene
COL9A2  collagen type IX alpha 2 chain [KO:K08131]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120260
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00476  Multiple epiphyseal dysplasia
H02072  Stickler syndrome
Reference
PMID:32633442
  Authors
Dennis EP, Greenhalgh-Maychell PL, Briggs MD
  Title
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
  Journal
Dev Dyn 250:345-359 (2021)
DOI:10.1002/dvdy.221
Reference
PMID:21671392
  Authors
Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L
  Title
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
  Journal
Am J Med Genet A 155A:1668-72 (2011)
DOI:10.1002/ajmg.a.34071
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