COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 22246659 2012
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 21671392 2011
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 16033917 2005
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. 10733181 2000
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. 10677296 2000
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 10581026 1999
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Clinical and Molecular genetics of Stickler syndrome. 10353778 1999
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. 9188673 1997
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 7859284 1995
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Cartilage contains mixed fibrils of collagen types II, IX, and XI. 2463256 1989
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs797044915
rs797044915
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. 813535 1975