DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Low density lipoprotein cholesterol measurement ×

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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:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	3383
Gene Symbol:	ICAM1

ICAM1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	7018
Gene Symbol:	TF

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	1103
Gene Symbol:	CHAT

CHAT

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	64240
Gene Symbol:	ABCG5

ABCG5

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	57794
Gene Symbol:	SUGP1

SUGP1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

22885922

2012

Entrez Id:	5699
Gene Symbol:	PSMB10

PSMB10

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	1270
Gene Symbol:	CNTF

CNTF

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	6876
Gene Symbol:	TAGLN

TAGLN

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	23659
Gene Symbol:	PLA2G15

PLA2G15

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	6853
Gene Symbol:	SYN1

SYN1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	108
Gene Symbol:	ADCY2

ADCY2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	355
Gene Symbol:	FAS

FAS

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	54918
Gene Symbol:	CMTM6

CMTM6

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

Entrez Id:	6262
Gene Symbol:	RYR2

RYR2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	34
Gene Symbol:	ACADM

ACADM

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	29881
Gene Symbol:	NPC1L1

NPC1L1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

Entrez Id:	1892
Gene Symbol:	ECHS1

ECHS1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	5055
Gene Symbol:	SERPINB2

SERPINB2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	10452
Gene Symbol:	TOMM40

TOMM40

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	3992
Gene Symbol:	FADS1

FADS1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Biological, clinical and population relevance of 95 loci for blood lipids.

20686565

2010

Entrez Id:	7421
Gene Symbol:	VDR

VDR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	7186
Gene Symbol:	TRAF2

TRAF2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

22629316

2012

Entrez Id:	3156
Gene Symbol:	HMGCR

HMGCR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASDB

Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

20864672

2010