MAPK6, mitogen-activated protein kinase 6, 5597

N. diseases: 40; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16964720
rs16964720
Entrez Id: 5597;112268150
Gene Symbol: MAPK6;LOC112268150
MAPK6;LOC112268150
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs16964720
rs16964720
Entrez Id: 5597;112268150
Gene Symbol: MAPK6;LOC112268150
MAPK6;LOC112268150
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs62015197
rs62015197
Entrez Id: 5597
Gene Symbol: MAPK6
MAPK6
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASCAT Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. 25676789 2015
dbSNP: rs62015197
rs62015197
Entrez Id: 5597
Gene Symbol: MAPK6
MAPK6
CUI: C0202239
Disease:
Uric acid measurement (procedure)
0.700 GeneticVariation GWASCAT Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. 25676789 2015
dbSNP: rs62015197
rs62015197
Entrez Id: 5597
Gene Symbol: MAPK6
MAPK6
CUI: C0003868
Disease:
Arthritis, Gouty
0.700 GeneticVariation GWASCAT Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. 25676789 2015
dbSNP: rs16964657
rs16964657
Entrez Id: 5597;112268149
Gene Symbol: MAPK6;LOC112268149
MAPK6;LOC112268149
CUI: C4021107
Disease:
Non-obstructive azoospermia
0.700 GeneticVariation GWASDB A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. 22541561 2012
dbSNP: rs35697691
rs35697691
Entrez Id: 5597;112268150
Gene Symbol: MAPK6;LOC112268150
MAPK6;LOC112268150
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We found that in comparison with wild type ERK3, both L290P and L290V mutants have greatly increased activity in promoting cancer cell migration and invasion, but have little impact on ERK3's role in cell proliferation. 29101390 2017
dbSNP: rs35697691
rs35697691
Entrez Id: 5597;112268150
Gene Symbol: MAPK6;LOC112268150
MAPK6;LOC112268150
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE We found that in comparison with wild type ERK3, both L290P and L290V mutants have greatly increased activity in promoting cancer cell migration and invasion, but have little impact on ERK3's role in cell proliferation. 29101390 2017
dbSNP: rs35697691
rs35697691
Entrez Id: 5597;112268150
Gene Symbol: MAPK6;LOC112268150
MAPK6;LOC112268150
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE We found that in comparison with wild type ERK3, both L290P and L290V mutants have greatly increased activity in promoting cancer cell migration and invasion, but have little impact on ERK3's role in cell proliferation. 29101390 2017