DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Age related macular degeneration ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	80036
Gene Symbol:	TRPM3

TRPM3

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.100

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	4308
Gene Symbol:	TRPM1

TRPM1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.110

GeneticVariation

GWASCAT

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

28813576

2017

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.120

GeneticVariation

GWASCAT

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

23326517

2013

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.120

GeneticVariation

GWASCAT

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

22694956

2012

Entrez Id:	7148
Gene Symbol:	TNXB

TNXB

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.130

GeneticVariation

GWASCAT

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

22694956

2012

Entrez Id:	27346
Gene Symbol:	TMEM97

TMEM97

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.100

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.120

GeneticVariation

GWASCAT

Seven new loci associated with age-related macular degeneration.

23455636

2013

Entrez Id:	8224
Gene Symbol:	SYN3

SYN3

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.110

GeneticVariation

GWASCAT

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

20385819

2010

Entrez Id:	8224
Gene Symbol:	SYN3

SYN3

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.110

GeneticVariation

GWASCAT

Seven new loci associated with age-related macular degeneration.

23455636

2013

Entrez Id:	8224
Gene Symbol:	SYN3

SYN3

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.110

GeneticVariation

GWASCAT

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

20385826

2010

Entrez Id:	8224
Gene Symbol:	SYN3

SYN3

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.110

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	8224
Gene Symbol:	SYN3

SYN3

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.110

GeneticVariation

GWASCAT

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

21665990

2011

Entrez Id:	8859
Gene Symbol:	STK19

STK19

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.100

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	6733
Gene Symbol:	SRPK2

SRPK2

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.100

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	23539
Gene Symbol:	SLC16A8

SLC16A8

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.420

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	23539
Gene Symbol:	SLC16A8

SLC16A8

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.420

GeneticVariation

GWASCAT

Seven new loci associated with age-related macular degeneration.

23455636

2013

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.190

GeneticVariation

GWASCAT

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

20385819

2010

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.190

GeneticVariation

GWASCAT

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

20861866

2010

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.190

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.190

GeneticVariation

GWASCAT

Seven new loci associated with age-related macular degeneration.

23455636

2013

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.190

GeneticVariation

GWASCAT

Genome-wide analysis of disease progression in age-related macular degeneration.

29346644

2018

Entrez Id:	6499
Gene Symbol:	SKIV2L

SKIV2L

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.190

GeneticVariation

GWASCAT

Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.

23577725

2013

Entrez Id:	6239
Gene Symbol:	RREB1

RREB1

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.100

GeneticVariation

GWASCAT

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

20385826

2010

Entrez Id:	5978
Gene Symbol:	REST

REST

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.120

GeneticVariation

GWASCAT

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

21909106

2011

Entrez Id:	5959
Gene Symbol:	RDH5

RDH5

CUI:	C0242383
Disease:	Age related macular degeneration

Age related macular degeneration

0.120

GeneticVariation

GWASCAT

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

26691988

2016