DisGeNET - a database of gene-disease associations

MAP3K20, mitogen-activated protein kinase kinase kinase 20, 51776

N. diseases: 133; 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:

rs863225437

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4225167
Disease:

SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY

0.800

GeneticVariation

UNIPROT

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

26755636

2016

dbSNP:

rs863225437

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4225167
Disease:

SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY

0.800

CausalMutation

CLINVAR

dbSNP:

rs722864

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C0684249
Disease:

Carcinoma of lung

0.710

GeneticVariation

BEFREE

In conclusion, the ZAK rs3769201 and rs722864 may be functional susceptibility loci for lung cancer risk.

29071797

2018

dbSNP:

rs722864

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C0684249
Disease:

Carcinoma of lung

0.710

GeneticVariation

GWASCAT

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

28604730

2017

dbSNP:

rs7575189

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

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:

rs763481300

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4540345
Disease:

MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION

0.700

GeneticVariation

UNIPROT

Autozygome and high throughput confirmation of disease genes candidacy.

30237576

2019

dbSNP:

rs10193498

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

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:

rs6758859

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

30224653

2018

dbSNP:

rs763481300

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4540345
Disease:

MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION

0.700

GeneticVariation

UNIPROT

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

27816943

2017

dbSNP:

rs1293675104

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4540345
Disease:

MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553576774

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4540345
Disease:

MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553578407

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C4540345
Disease:

MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION

0.700

CausalMutation

CLINVAR

dbSNP:

rs863225437

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C2931019
Disease:

Split hand foot deformity 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs863225437

Entrez Id:	51776;339751
Gene Symbol:	MAP3K20;MAP3K20-AS1

MAP3K20;MAP3K20-AS1

CUI:	C0432028
Disease:

Split foot

0.700

CausalMutation

CLINVAR

dbSNP:

rs3769201

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C1306460
Disease:

Primary malignant neoplasm of lung

0.010

GeneticVariation

BEFREE

In conclusion, the ZAK rs3769201 and rs722864 may be functional susceptibility loci for lung cancer risk.

29071797

2018

dbSNP:

rs3769201

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C0242379
Disease:

Malignant neoplasm of lung

0.010

GeneticVariation

BEFREE

In conclusion, the ZAK rs3769201 and rs722864 may be functional susceptibility loci for lung cancer risk.

29071797

2018

dbSNP:

rs3769201

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C0684249
Disease:

Carcinoma of lung

0.010

GeneticVariation

BEFREE

In conclusion, the ZAK rs3769201 and rs722864 may be functional susceptibility loci for lung cancer risk.

29071797

2018

dbSNP:

rs722864

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C1306460
Disease:

Primary malignant neoplasm of lung

0.010

GeneticVariation

BEFREE

In conclusion, the ZAK rs3769201 and rs722864 may be functional susceptibility loci for lung cancer risk.

29071797

2018

dbSNP:

rs722864

Entrez Id:	51776
Gene Symbol:	MAP3K20

MAP3K20

CUI:	C0242379
Disease:

Malignant neoplasm of lung

0.010

GeneticVariation

BEFREE

In conclusion, the ZAK rs3769201 and rs722864 may be functional susceptibility loci for lung cancer risk.

29071797

2018