COL11A2, collagen type XI alpha 2 chain, 1302

N. diseases: 399; N. variants: 37
Disease: Pierre Robin syndrome with fetal chondrodysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912946
rs121912946
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1848488
Disease:
Pierre Robin syndrome with fetal chondrodysplasia 		0.700 GeneticVariation UNIPROT 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: rs121912946
rs121912946
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1848488
Disease:
Pierre Robin syndrome with fetal chondrodysplasia 		0.700 GeneticVariation UNIPROT 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: rs121912946
rs121912946
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
CUI: C1848488
Disease:
Pierre Robin syndrome with fetal chondrodysplasia 		0.700 GeneticVariation UNIPROT Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. 7859284 1995