×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
22246659
2012
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
21671392
2011
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
16637051
2006
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
16033917
2005
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
10677296
2000
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
10733181
2000
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
10581026
1999
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
10486316
1999
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Clinical and Molecular genetics of Stickler syndrome.
10353778
1999
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
9805126
1998
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
9506662
1998
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
9188673
1997
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.
8838804
1996
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
7859284
1995
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.
2760050
1989
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
Cartilage contains mixed fibrils of collagen types II, IX, and XI.
2463256
1989
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
group
CLINVAR
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
813535
1975