COL11A1, collagen type XI alpha 1 chain, 1301

N. diseases: 268; N. variants: 41
Disease: Stickler syndrome, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE We describe a child with Stickler syndrome due to a novel splice site mutation in COL11A1. 28315471 2017
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Thirteen patients aged 10-62y were included, twelve of whom had type 1 Stickler syndrome (COL2A1 mutation) and one type 2 Stickler syndrome (COL11A1 mutation). 27193475 2016
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. 27390512 2016
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Deletions, insertions, splice site, and missense mutations in COL11A1 have been identified in Stickler syndrome and Marshall syndrome patients. 25073711 2014
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Patients referred to the national Stickler syndrome diagnostic service for England, UK were assessed clinically and subsequently sequenced for mutations in COL11A1. 23922384 2013
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. 20513134 2010
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. 18309337 2008
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE The diagnosis of Stickler syndrome in the propositus was confirmed initially by vitreous assessment and later by demonstration of mutation in the COL11A1 gene. 17318849 2007
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. 17236192 2007
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been shown to have mutations that result in Stickler syndrome. 16752401 2006
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Clinical examination of the family and linkage analysis using markers flanking COL2A1 and COL11A1, the known loci for Stickler syndrome; mutation screening of COL2A1; construction of splicing reporter minigenes and transfection into cultured cells; and RT-PCR analysis of reporter specific transcripts. 15671297 2005
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE The clear presence of the type 1 or "membranous" vitreous phenotype in our family, despite the probable mutation in the COL11A1 gene, suggests greater phenotypical heterogeneity and a more extensive mutation spectrum, even of the COL11A1 gene, than previously thought, explaining the basis for the different vitreous phenotypes seen in Stickler syndrome. 11450497 2001
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE These data confirm that mutations in COL11A1 cause Stickler syndrome with the type2 vitreous phenotype and also reveal further locus heterogeneity. 10573014 2000
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Since Stickler syndrome can be produced by mutations in COL2A1, COL11A1, and COL11A2, our data suggest that there is at least a fourth locus for Stickler syndrome. 9805127 1998
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 GeneticVariation disease BEFREE Our results also demonstrate allelism of Marshall syndrome with the subset of Stickler syndrome families associated with COL11A1 mutations. 9529347 1998
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 Biomarker disease MGD Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). 1952599 1991
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 Biomarker disease MGD A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis. 4100752 1971
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.600 Biomarker disease GENOMICS_ENGLAND