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: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. 21976959 2011
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 11978762 2002
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT Mutational screening of VSX1 in keratoconus patients from the European population. 19763142 2010
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT 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: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. 15623752 2005
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: rs74315433
rs74315433
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: rs74315433
rs74315433
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: rs74315433
rs74315433
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: rs74315433
rs74315433
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: rs74315433
rs74315433
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: rs74315433
rs74315433
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: 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: rs74315433
rs74315433
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0339284
Disease:
Polymorphous corneal dystrophy 		0.010 GeneticVariation BEFREE None of the 12 probands with PPCD demonstrated the previously described Gly160Asp mutation within the VSX1 gene. 15725882 2005
dbSNP: rs74315434
rs74315434
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: rs74315434
rs74315434
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: rs74315434
rs74315434
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: rs74315434
rs74315434
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: 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