VCAN, versican, 1462

N. diseases: 205; N. variants: 16
Disease: Hyaloideoretinal degeneration of Wagner ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Next-generation sequencing and microarray analysis of 141 genes established a diagnosis of Wagner syndrome in this individual, by detection of an 11.7 kilobase (kb) deletion encompassing exon 8 of VCAN. 30055036 2018
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE NGS is then an effective screening tool for genetic diagnosis of Wagner disease, improving the chance of identifying all disease-causative variants as well as mosaic mutations in VCAN. 27667122 2017
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 22739342 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR A family with Wagner syndrome with uveitis and a new versican mutation. 24174867 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. 22739342 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Wagner syndrome is associated with mutations in versican (VCAN), which encodes for a chondroitin sulfate proteoglycan. 23592912 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR De novo splice mutation in the versican gene in a family with Wagner syndrome. 23571384 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 Biomarker disease BEFREE Beyond the structural role in the retinal-vitreous architecture, versican is also emerging as a pivotal mediator of the inflammatory response, supporting uveitis predisposition as a clinical manifestation of WS. 24174867 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Among these, identification of a mutation in VCAN in a family with a complicated phenotype helped to finalize the clinical diagnosis as Wagner syndrome. 23462753 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. 23462753 2013
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features. 21738396 2011
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 19901218 2009
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Wagner syndrome maps to chromosome 5q13-q14 and is associated with mutations in CSPG2 encoding versican, a proteoglycan present in human vitreous. 19901218 2009
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). 18309337 2008
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Clinical characterisation and molecular analysis of Wagner syndrome. 17035272 2007
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. 16877430 2006
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE We investigated whether CSPG2/Versican was mutated in six Dutch families and one Chinese family with Wagner disease and in a family with ERVR. 16877430 2006
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Identification of the genetic defect in the original Wagner syndrome family. 16636652 2006
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 CausalMutation disease CLINVAR Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome. 16043844 2005
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 Biomarker disease BEFREE Although the CSPG2 gene has been excluded as a candidate for causing Wagner syndrome, these data emphasize the necessity of further mutational screening in new families and careful functional characterization. 16043844 2005
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease BEFREE Genetic investigations were also performed, considering three candidate loci for Stickler syndrome and Wagner syndrome (COL2A1, COL11A1, WGN1). 11450497 2001
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 Biomarker disease BEFREE CSPG2 is shown to lie within the critical region; however, analysis of the complete coding region of the mature peptide reveals no clear evidence that it is the gene underlying WGN1. 10198161 1999
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 Biomarker disease CTD_human
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1840452
Disease: Hyaloideoretinal degeneration of Wagner
Hyaloideoretinal degeneration of Wagner 		0.700 GeneticVariation disease CLINVAR