DisGeNET - a database of gene-disease associations

TOP1, DNA topoisomerase I, 7150

N. diseases: 143; N. variants: 10

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:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

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

30926973

2019

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

A large electronic-health-record-based genome-wide study of serum lipids.

29507422

2018

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASCAT

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

20686565

2010

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASDB

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

20686565

2010

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.800

GeneticVariation

GWASDB

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

20686565

2010

dbSNP:

rs16989541

Entrez Id:	7150;101927117
Gene Symbol:	TOP1;PLCG1-AS1

TOP1;PLCG1-AS1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1997833

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs2223745

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6065311

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.700

GeneticVariation

GWASCAT

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

30926973

2019

dbSNP:

rs73611258

Entrez Id:	7150;101927117
Gene Symbol:	TOP1;PLCG1-AS1

TOP1;PLCG1-AS1

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs8122094

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs6065311

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.700

GeneticVariation

GWASCAT

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

28334899

2017

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Discovery and refinement of loci associated with lipid levels.

24097068

2013

dbSNP:

rs6072275

Entrez Id:	7150;101927117
Gene Symbol:	TOP1;PLCG1-AS1

TOP1;PLCG1-AS1

CUI:	C0428568
Disease:

Fasting blood glucose measurement

0.700

GeneticVariation

GWASDB

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

22885924

2012

dbSNP:

rs6072275

Entrez Id:	7150;101927117
Gene Symbol:	TOP1;PLCG1-AS1

TOP1;PLCG1-AS1

CUI:	C1261430
Disease:

Fasting blood sugar result

0.700

GeneticVariation

GWASDB

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

22885924

2012

dbSNP:

rs6029526

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

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

20686565

2010

dbSNP:

rs121434562

Entrez Id:	7150;101927117
Gene Symbol:	TOP1;PLCG1-AS1

TOP1;PLCG1-AS1

CUI:	C4016020
Disease:

DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT

0.700

CausalMutation

CLINVAR

dbSNP:

rs6072249

Entrez Id:	7150
Gene Symbol:	TOP1

TOP1

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.010

GeneticVariation

BEFREE

Further analyses are needed to confirm that the topo-1 SNP rs6072249 and transcription factor interaction could be a part of tools to predict clinical outcome in mCRC patients treated with irinotecan-based regimens.

27577551

2016