DisGeNET - a database of gene-disease associations

Source: GWASCAT

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:	9415
Gene Symbol:	FADS2

FADS2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

Entrez Id:	2939
Gene Symbol:	GSTA2

GSTA2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Genetically regulated gene expression underlies lipid traits in Hispanic cohorts.

31393916

2019

Entrez Id:	3156
Gene Symbol:	HMGCR

HMGCR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

30718733

2019

Entrez Id:	29881
Gene Symbol:	NPC1L1

NPC1L1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

Entrez Id:	26047
Gene Symbol:	CNTNAP2

CNTNAP2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

30670697

2019

Entrez Id:	64764
Gene Symbol:	CREB3L2

CREB3L2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	23301
Gene Symbol:	EHBP1

EHBP1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

30670697

2019

Entrez Id:	23460
Gene Symbol:	ABCA6

ABCA6

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	3083
Gene Symbol:	HGFAC

HGFAC

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	1952
Gene Symbol:	CELSR2

CELSR2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

Entrez Id:	57572
Gene Symbol:	DOCK6

DOCK6

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

Entrez Id:	348
Gene Symbol:	APOE

APOE

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.

31675503

2019

Entrez Id:	6927
Gene Symbol:	HNF1A

HNF1A

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

Entrez Id:	350
Gene Symbol:	APOH

APOH

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	1952
Gene Symbol:	CELSR2

CELSR2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

Entrez Id:	6484
Gene Symbol:	ST3GAL4

ST3GAL4

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

30670697

2019

Entrez Id:	80736
Gene Symbol:	SLC44A4

SLC44A4

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	79677
Gene Symbol:	SMC6

SMC6

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	5506
Gene Symbol:	PPP1R3A

PPP1R3A

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study.

31201950

2019

Entrez Id:	745
Gene Symbol:	MYRF

MYRF

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

Entrez Id:	55219
Gene Symbol:	MACO1

MACO1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	1952
Gene Symbol:	CELSR2

CELSR2

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019

Entrez Id:	2646
Gene Symbol:	GCKR

GCKR

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

30926973

2019

Entrez Id:	3837
Gene Symbol:	KPNB1

KPNB1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.100

GeneticVariation

GWASCAT

Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

30698716

2019