DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Glaucoma ×

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:

rs4656461

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.810

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011

dbSNP:

rs523096

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.810

GeneticVariation

GWASDB

The SNPs near rs523096 were recently reported to be associated with OAG associated with elevated IOP in primary open-angle glaucoma (POAG), the predominant subtype of glaucoma in Caucasian populations.

22792221

2012

dbSNP:

rs3213787

SRBD1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.800

GeneticVariation

GWASDB

Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.

20363506

2010

dbSNP:

rs4977756

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011

dbSNP:

rs2165241

LOXL1 ; LOXL1-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.750

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs1048661

LOXL1 ; LOXL1-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.730

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs10120688

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.710

GeneticVariation

GWASDB

Common variants on chromosome 9p21 are associated with normal tension glaucoma.

22792221

2012

dbSNP:

rs1063192

CDKN2B ; CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.710

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011

dbSNP:

rs10152898

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs10965219

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common variants on chromosome 9p21 are associated with normal tension glaucoma.

22792221

2012

dbSNP:

rs12440667

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs1412829

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011

dbSNP:

rs1992314

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs2028386

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs2304719

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs3217992

CDKN2B ; CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common variants on chromosome 9p21 are associated with normal tension glaucoma.

22792221

2012

dbSNP:

rs4243042

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs4337252

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs4886782

LOXL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

17690259

2007

dbSNP:

rs504022

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011

dbSNP:

rs518394

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common variants on chromosome 9p21 are associated with normal tension glaucoma.

22792221

2012

dbSNP:

rs564398

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common variants on chromosome 9p21 are associated with normal tension glaucoma.

22792221

2012

dbSNP:

rs643319

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Common variants on chromosome 9p21 are associated with normal tension glaucoma.

22792221

2012

dbSNP:

rs7034696

ADAMTSL1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011

dbSNP:

rs7049105

CDKN2B-AS1

CUI:	C0017601
Disease:	Glaucoma

Glaucoma

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

21532571

2011