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:

rs74315432

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C1835677
Disease:

Keratoconus 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs74315435

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C3280099
Disease:

CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME

0.800

CausalMutation

CLINVAR

dbSNP:

rs148957473

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C1835677
Disease:

Keratoconus 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs749663315

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C1835677
Disease:

Keratoconus 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs771561481

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C1835677
Disease:

Keratoconus 1

0.700

GeneticVariation

UNIPROT

dbSNP:

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:

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

dbSNP:

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:

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:

rs74315434

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C0022578
Disease:

Keratoconus

0.010

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:

rs74315435

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C3280099
Disease:

CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME

0.800

GeneticVariation

UNIPROT

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

15051220

2004

dbSNP:

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:

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:

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:

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

dbSNP:

rs148957473

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C0242383
Disease:

Age related 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

dbSNP:

rs148957473

Entrez Id:	30813
Gene Symbol:	VSX1

VSX1

CUI:	C0339284
Disease:

Polymorphous corneal dystrophy

0.010

GeneticVariation

BEFREE

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.

16384943

2006

dbSNP:

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:

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