DisGeNET - a database of gene-disease associations

VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs6115024

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs576300014

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

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

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

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:

rs576300014

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

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

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

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:

rs576300014

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

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

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:

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:

rs576300014

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

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

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

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:

rs576300014

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

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

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

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:

rs576300014

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

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:

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

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