MAPK1, mitogen-activated protein kinase 1, 5594

N. diseases: 1059; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2283792
rs2283792
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0026769
Disease:
Multiple Sclerosis
C 0.800 GeneticVariation GWASDB Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
dbSNP: rs2283792
rs2283792
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0026769
Disease:
Multiple Sclerosis
C 0.800 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
dbSNP: rs2283792
rs2283792
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0026769
Disease:
Multiple Sclerosis
C 0.800 GeneticVariation GWASCAT Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
dbSNP: rs17759796
rs17759796
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1305855
Disease:
Body mass index
A 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0007873
Disease:
Uterine Cervical Neoplasm
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.710 GeneticVariation BEFREE The HNSCC cells with MAPK1 E322K exhibited enhanced EGFR phosphorylation and erlotinib sensitivity compared with wild-type MAPK1 cells. 26181029 2015
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Paradoxically, the tumor harbored an activating MAPK1 E322K mutation (allelic fraction 0.13), which predicts ERK activation and erlotinib resistance in EGFR-mutant lung cancer. 26181029 2015
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The most frequent extracellular signal-regulated kinase 2 (ERK2) mutation occurring in cancers is E322K (E-K). 31296562 2019
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Paradoxically, the tumor harbored an activating MAPK1 E322K mutation (allelic fraction 0.13), which predicts ERK activation and erlotinib resistance in EGFR-mutant lung cancer. 26181029 2015
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE A recent exome-sequencing study revealed prevalent mitogen-activated protein kinase 1 (MAPK1) p.E322K mutation in cervical carcinoma. 26548627 2016
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0007137
Disease:
Squamous cell carcinoma
0.010 GeneticVariation BEFREE Common docking domain mutation E322K of the ERK2 gene is infrequent in oral squamous cell carcinomas. 23464422 2012
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Paradoxically, the tumor harbored an activating MAPK1 E322K mutation (allelic fraction 0.13), which predicts ERK activation and erlotinib resistance in EGFR-mutant lung cancer. 26181029 2015
dbSNP: rs1057519911
rs1057519911
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Paradoxically, the tumor harbored an activating MAPK1 E322K mutation (allelic fraction 0.13), which predicts ERK activation and erlotinib resistance in EGFR-mutant lung cancer. 26181029 2015
dbSNP: rs11913721
rs11913721
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The genetic mutations within MAPK1 (rs6928, rs9340, rs11913721), HIF-1 (rs1087314, rs2057482), and HO-1 (rs2071746) could alter susceptibility to perimenopausal CAD in this Chinese population. 28444966 2017
dbSNP: rs13515
rs13515
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1269683
Disease:
Major Depressive Disorder
0.010 GeneticVariation BEFREE The primary aim of this study was to investigate whether a set of single nucleotide polymorphisms (SNPs) within two genes implicated in neuroplasticity and inflammatory processes (the mitogen activated protein kinase 1, MAPK1 (rs3810608, rs6928, rs13515 and rs8136867), and the cyclic AMP responsive element binding protein 1, CREB1 (rs889895, rs6740584, rs2551922 and rs2254137)) was associated with antidepressant treatment resistance (according to two different definitions), in 285 Major Depressive Disorder (MDD) patients. 23537502 2013
dbSNP: rs1390282714
rs1390282714
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We examined the effect of the introduction of a membrane protein-encoding, mutated (S351A)RIN1 gene into a colon cancer. 22812185 2011
dbSNP: rs1390282714
rs1390282714
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE We examined the effect of the introduction of a membrane protein-encoding, mutated (S351A)RIN1 gene into a colon cancer. 22812185 2011
dbSNP: rs2266966
rs2266966
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Logistic regression analysis demonstrated that <i>MEK1</i> rs12050732 (OR = 1.29 [95%CI: 1.06-1.58], <i>P</i> = 0.012), <i>ERK2</i> rs2266966 (OR = 0.81 [95%CI: 0.67-0.99], <i>P</i> = 0.040) and <i>ERK2</i> rs5999521 (OR = 0.66 [95%CI: 0.51-0.86], <i>P</i> = 0.002) were associated with PCOS risk without adjusting for age and body mass index. 29245975 2017
dbSNP: rs5999521
rs5999521
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Logistic regression analysis demonstrated that <i>MEK1</i> rs12050732 (OR = 1.29 [95%CI: 1.06-1.58], <i>P</i> = 0.012), <i>ERK2</i> rs2266966 (OR = 0.81 [95%CI: 0.67-0.99], <i>P</i> = 0.040) and <i>ERK2</i> rs5999521 (OR = 0.66 [95%CI: 0.51-0.86], <i>P</i> = 0.002) were associated with PCOS risk without adjusting for age and body mass index. 29245975 2017
dbSNP: rs5999749
rs5999749
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE In the extension analyses, ERK rs5999749, Dock180 rs4635002 and C3G rs7853122 showed marginally significant gene-dose effects for gastric cancer. 21698158 2011
dbSNP: rs5999749
rs5999749
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE In the extension analyses, ERK rs5999749, Dock180 rs4635002 and C3G rs7853122 showed marginally significant gene-dose effects for gastric cancer. 21698158 2011
dbSNP: rs5999749
rs5999749
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Our findings suggest that ERK rs5999749, Dock180 rs4635002 and C3G rs7853122 are genetic determinants in gastric carcinogenesis. 21698158 2011
dbSNP: rs6928
rs6928
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Regarding MAPK1 , rs6928 (OR: 1.71, 95% CI: 1.47-1.98, P < 0.05), rs9340 (OR: 0.85, 95% CI: 0.73-0.99, P < 0.05), and rs11913721 (OR: 0.70, 95% CI: 0.52-0.95, P < 0.05) were remarkably associated with susceptibility to perimenopausal CAD. 28444966 2017