Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 22246659

2012
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392

2011
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917

2005
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Clinical and Molecular genetics of Stickler syndrome. 10353778

1999
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026

1999
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 7859284

1995
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Cartilage contains mixed fibrils of collagen types II, IX, and XI. 2463256

1989
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 813535

1975