KEGG   VARIANT: 1301v1
Entry
1301v1                      Variant                                
Name
COL11A1 mutation
Gene
COL11A1  collagen type XI alpha 1 chain [KO:K19721]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120280
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00604  Deafness, autosomal dominant
H00805  Vitreoretinal degeneration
H02080  Fibrochondrogenesis
H02081  Marshall syndrome
H02539  Intervertebral disc disease
Reference
  Authors
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH
  Title
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
  Journal
Am J Hum Genet 87:708-12 (2010)
DOI:10.1016/j.ajhg.2010.10.009
Reference
  Authors
Mio F, Chiba K, Hirose Y, Kawaguchi Y, Mikami Y, Oya T, Mori M, Kamata M, Matsumoto M, Ozaki K, Tanaka T, Takahashi A, Kubo T, Kimura T, Toyama Y, Ikegawa S
  Title
A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.
  Journal
Am J Hum Genet 81:1271-7 (2007)
DOI:10.1086/522377
Reference
  Authors
Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Mannikko M, Mortier GR
  Title
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
  Journal
Am J Med Genet A 143A:258-64 (2007)
DOI:10.1002/ajmg.a.31586
Reference
  Authors
Rad A, Schade-Mann T, Gamerdinger P, Yanus GA, Schulte B, Muller M, Imyanitov EN, Biskup S, Lowenheim H, Tropitzsch A, Vona B
  Title
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus.
  Journal
Hum Mutat 42:25-30 (2021)
DOI:10.1002/humu.24136
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