DisGeNET - a database of gene-disease associations

MAP2K5, mitogen-activated protein kinase kinase 5, 5607

N. diseases: 70; N. variants: 22

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:

rs12593813

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.810

GeneticVariation

BEFREE

However, the haplotype analysis showed that the G-G-G-G-T (rs1026732-rs11635424-rs12593813-rs4489954-rs3784709) haplotype was associated with RLS symptoms (permutation p=0.033).

29422930

2018

dbSNP:

rs12593813

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.810

GeneticVariation

GWASDB

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

21779176

2011

dbSNP:

rs12593813

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.810

GeneticVariation

GWASCAT

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

21779176

2011

dbSNP:

rs12593813

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.810

GeneticVariation

GWASCAT

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

17637780

2007

dbSNP:

rs12593813

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.810

GeneticVariation

GWASDB

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

17637780

2007

dbSNP:

rs8028313

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0028754
Disease:

Obesity

0.800

GeneticVariation

GWASCAT

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

23563607

2013

dbSNP:

rs8028313

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0028754
Disease:

Obesity

0.800

GeneticVariation

GWASDB

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

23563607

2013

dbSNP:

rs1026732

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.720

GeneticVariation

BEFREE

However, the haplotype analysis showed that the G-G-G-G-T (rs1026732-rs11635424-rs12593813-rs4489954-rs3784709) haplotype was associated with RLS symptoms (permutation p=0.033).

29422930

2018

dbSNP:

rs1026732

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.720

GeneticVariation

BEFREE

Case-control association studies showed significant association between all three variants and RLS (P=0.0001/OR=1.65, P=0.0021/OR=1.59, and P=0.0011/OR=1.55 for rs2300478, rs9357271, and rs1026732, respectively).

21925394

2011

dbSNP:

rs1026732

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.720

GeneticVariation

GWASDB

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

17637780

2007

dbSNP:

rs11635424

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.710

GeneticVariation

BEFREE

However, the haplotype analysis showed that the G-G-G-G-T (rs1026732-rs11635424-rs12593813-rs4489954-rs3784709) haplotype was associated with RLS symptoms (permutation p=0.033).

29422930

2018

dbSNP:

rs3784709

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.710

GeneticVariation

BEFREE

However, the haplotype analysis showed that the G-G-G-G-T (rs1026732-rs11635424-rs12593813-rs4489954-rs3784709) haplotype was associated with RLS symptoms (permutation p=0.033).

29422930

2018

dbSNP:

rs4489954

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.710

GeneticVariation

BEFREE

However, the haplotype analysis showed that the G-G-G-G-T (rs1026732-rs11635424-rs12593813-rs4489954-rs3784709) haplotype was associated with RLS symptoms (permutation p=0.033).

29422930

2018

dbSNP:

rs11635424

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.710

GeneticVariation

GWASDB

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

17637780

2007

dbSNP:

rs3784709

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.710

GeneticVariation

GWASDB

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

17637780

2007

dbSNP:

rs4489954

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0035258
Disease:

Restless Legs Syndrome

0.710

GeneticVariation

GWASDB

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

17637780

2007

dbSNP:

rs16951001

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C0037369
Disease:

Smoking

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

30643258

2019

dbSNP:

rs16951275

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs2241423

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs3784710

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1314691
Disease:

Age at menarche

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3784710

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3865018

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

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:

rs11637027

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

30108127

2018

dbSNP:

rs4776970

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.

30108127

2018

dbSNP:

rs16951275

Entrez Id:	5607
Gene Symbol:	MAP2K5

MAP2K5

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

28443625

2017