MAPK1, mitogen-activated protein kinase 1, 5594

N. diseases: 1059; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.400 GeneticVariation disease BEFREE Common docking domain mutation E322K of the ERK2 gene is infrequent in oral squamous cell carcinomas. 23464422 2012
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.400 GeneticVariation disease LHGDN An altered fibronectin matrix induces anoikis of human squamous cell carcinoma cells by suppressing integrin alpha v levels and phosphorylation of FAK and ERK. 17879163 2007
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE In the extension analyses, ERK rs5999749, Dock180 rs4635002 and C3G rs7853122 showed marginally significant gene-dose effects for gastric cancer. 21698158 2011
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE Experimental results on male BALB/c nude mice confirmed that orally administration of COP at high-dose (150 mg/kg) could suppress tumor growth, and may reduce cancer metastasis risk by inhibiting the RAS-ERK pathway in vivo. 28165459 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE CSCs-exosomes also decreased apoptosis (marked by downregulation of <i>Bax</i> and <i>p53</i> and upregulation of <i>Bcl2</i>, and increased immunostaining of PCNA), increased angiogenetic activity (revealed by upregulation of <i>VEGF</i>), enhanced metastasis and invasiveness (indicated by upregulation of P13K and ERK proteins and their downstream target <i>MMP9</i> and downregulation of <i>TIMP1</i>), and induced epithelial mesenchymal transition (marked by increased serum and hepatic level of TGF<i>β</i>1 mRNA and protein). 30224923 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.400 GeneticVariation phenotype BEFREE We found a significant correlation of Snail with EGFR((Tyr1086)) and p38 MAPK((Thr180/Tyr182)) in primary ovarian carcinoma and with EGFR((Tyr1086)) in their corresponding metastases. 23913224 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease 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
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.400 GeneticVariation disease BEFREE As paralogous gene mutations co‑occur frequently in human malignancies, we analyzed here a total of 263 ovarian carcinomas for the presence of MAPK1 and paralogous MAPK3 mutations by DNA sequencing. 26548627 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.340 GeneticVariation disease BEFREE Concerning SCZ risk, we partially confirmed the associations among COMT and MAPK1 genetic variants and SCZ. 29164477 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.330 GeneticVariation disease BEFREE Moreover, MAPK1 rs8136867 AG genotype was found to be associated with remission in the whole sample (MDD and BD). 23537502 2013
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
0.330 GeneticVariation phenotype BEFREE Collectively these data suggest that spinal P450c17 activates astrocytes via p38 phosphorylation, ultimately leading to the development of mechanical allodynia in a model of peripheral neuropathy. 31387001 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.320 GeneticVariation group BEFREE These results provide genetic evidence that ERK1 and ERK2 contribute to the development of cardiomyopathy caused by LMNA mutations and reveal interplay between these isoenzymes in maintaining a combined pathological activity in heart. 23933734 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.300 GeneticVariation disease BEFREE In the present study, adult male C57BL/6J mice with streptozotocin (STZ)-induced T2DM mice were subjected to photothrombotic ischemic stroke and treatment with p38 MAPK inhibitors. 29663930 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE In the present study, Fifty six primary tumor DNA samples were screened for mutations of hot spots in exons 1 and 2 of H-RAS and a part of the samples for exon 7 of ERK2 gene in which we previously reported a mutation in an OSCC cell line. 19628422 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status. 23349307 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE This work shows that ERK inhibitors are effective in LKB1 and LKB1/KRAS mutated tumors, thus offering a therapeutic strategy for this prognostically unfavorable subgroup of patients. 31634668 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Intriguingly, however, analogous oncogenic mutations in the downstream effector kinase ERK have not been described or validated <i>in vivo</i> To determine if a point mutation could render ERK intrinsically active and oncogenic, we have assayed in <i>Drosophila</i> the effects of a mutation that confers constitutive activity upon a yeast ERK ortholog, and which has been also identified in a few human tumors. 31740452 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Overexpression of H694R or E1384K mutant ALK leads to hyperphosphorylation of ALK, and activation of its downstream mediators STAT3, AKT, and ERK resulted in enhanced cell proliferation, colony formation, cell migration, and tumor growth in xenograft models. 21847362 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Preclinical studies suggest that ERK inhibitors are effective at inhibiting BRAF/RAS-mutated tumor growth and overcome BRAF or/and MEK inhibitor resistance. 29760222 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE PLX4032/vemurafenib resistance that arises in vivo in tumor matched short-term cultures or in vitro in melanoma cell lines is not caused by acquisition of secondary mutations in (V600E)B-RAF but rather is caused by upregulating platelet-derived growth factor receptor β (PDGFRβ) or N-RAS which results in resistance or sensitivity to mitogen-activated protein (MAP)/extracellular signal-regulated (ERK; MEK) kinase inhibitors, respectively. 21803746 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE The aim of the present study was to analyse two high grade transformation adenoid cystic carcinomas (hgACC) and one hybrid tumour in order to identify, by mutational and microsatellite analysis, genetic alterations in TP53, CDKN2A/ARF, RAS, BRAF, PTEN, MAPK2 and EGFR genes. 21503581 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE We observed overexpression of phospho-ERK in FGFR1 p.R661P and p.N546K mutant expressing HEK293 cells as well as FGFR1 mutated tumor samples, supporting enhanced MAP kinase pathway activation under these conditions. 26920151 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Furthermore, patients with RAS/RAF/MEK/ERK pathway mutations (38.5%) showed significantly better tumour response (p = 0.028), PFS (5.4 vs. 3.5 months, p = 0.010) and OS (10.8 vs. 5.9 months, p = 0.160) than wild type. 31312030 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE The demonstration of clonality of LCH cells, insufficient evidence alone for neoplasia, is now bolstered by finding driver somatic mutations in BRAF in up to 55% of patients with LCH, and activation of the RAS-RAF-MEK-ERK (where MEK and ERK are mitogen-activated protein kinase and extracellular signal-regulated kinase, respectively) pathway in nearly 100% of patients with LCH. 27314817 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Consistent with the high degree of selectivity, ERK phosphorylation is potently inhibited by PLX4720 in B-Raf(V600E)-bearing tumor cell lines but not in cells lacking oncogenic B-Raf. 18287029 2008