VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315434
rs74315434
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. 15623752 2005
dbSNP: rs74315434
rs74315434
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 11978762 2002
dbSNP: rs74315436
rs74315436
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. 15623752 2005
dbSNP: rs74315436
rs74315436
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. 21976959 2011
dbSNP: rs74315436
rs74315436
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs74315436
rs74315436
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT Mutational screening of VSX1 in keratoconus patients from the European population. 19763142 2010
dbSNP: rs74315436
rs74315436
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 11978762 2002
dbSNP: rs74315436
rs74315436
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT A novel VSX1 mutation identified in an individual with keratoconus in India. 19956409 2009
dbSNP: rs749663315
rs749663315
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs771561481
rs771561481
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs74315433
rs74315433
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.040 GeneticVariation BEFREE Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients. 28950846 2017
dbSNP: rs74315433
rs74315433
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.040 GeneticVariation BEFREE The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%). 18626569 2008
dbSNP: rs74315433
rs74315433
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.040 GeneticVariation BEFREE The change in p.G160D was observed in two patients with sporadic keratoconus. 19763142 2010
dbSNP: rs74315433
rs74315433
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.040 GeneticVariation BEFREE Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to the homeodomain. 11978762 2002
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE The previously reported c.731A>G (p.His244Arg) was detected in a patient with sporadic keratoconus, and not present in the controls. 23592923 2013
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN. 22171159 2011
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN. 22171159 2011
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding. 11978762 2002
dbSNP: rs6050307
rs6050307
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.020 GeneticVariation BEFREE Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23). 23289806 2013
dbSNP: rs6050307
rs6050307
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.020 GeneticVariation BEFREE SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. 25675348 2015
dbSNP: rs12480307
rs12480307
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation BEFREE Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23). 23289806 2013
dbSNP: rs140122268
rs140122268
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation BEFREE Meta analysis of reports on an association of p.D144E change with keratoconus phenotype was performed. 17960127 2007
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0024437
Disease:
Macular degeneration 		0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006