×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.
15372529
2004
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
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
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
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
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.
21208667
2011
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
21204229
2011
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED).
11668593
2001
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
7859284
1995
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
25780254
2015
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
15922184
2005
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
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
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
The results here and those published previously indicate that the Weissenbacher-Zweymüller syndrome (heterozygous OSMED ), nonocular Stickler syndrome, and homozygous OSMED are all caused by mutations in the COL11A2 gene.
9805126
1998
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.
19486694
2009
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Col11a1 and Col11a2 mRNA expression in the developing mouse cochlea: implications for the correlation of hearing loss phenotype with mutant type XI collagen genotype.
15141750
2004
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome : molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).
15558753
2005
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
Pierre Robin syndrome with fetal chondrodysplasia
0.820
Biomarker
CLINGEN
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
22796475
2012