|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
|
22246659 |
2012 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
|
21671392 |
2011 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
|
16033917 |
2005 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
|
10677296 |
2000 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
|
10733181 |
2000 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
|
10581026 |
1999 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Clinical and Molecular genetics of Stickler syndrome.
|
10353778 |
1999 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
|
7859284 |
1995 |
|
Multiple congenital anomalies
|
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 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Cartilage contains mixed fibrils of collagen types II, IX, and XI.
|
2463256 |
1989 |
|
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
|
813535 |
1975 |