| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | disease | BEFREE | In light of the emerging functions and roles of versican protein in human disease, we discuss how variants within exon 8 of the VCAN gene can be compared to those in exon 2 of the COL2A1 gene that cause atypical Stickler syndrome and propose that variants in other regions of the gene can be expected to present with a more systemic disease. | 30055036 | 2018 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. | 21922596 | 2012 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. | 18541977 | 2008 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. | 17721977 | 2008 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. | 16752401 | 2006 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. | 15671297 | 2005 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. | 11007540 | 2000 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) | 8317498 | 1993 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. | 2543071 | 1989 | ||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | CausalMutation | disease | CLINVAR |