ALPK2, alpha kinase 2, 115701

N. diseases: 19; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.300 GeneticVariation disease UNIPROT
CUI: C0346167
Disease: Undifferentiated carcinoma of ovary
Undifferentiated carcinoma of ovary
0.300 GeneticVariation disease UNIPROT
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease 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
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease 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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.050 Biomarker disease BEFREE We used a well-differentiated HCC cell line (HAK-1A) and a poorly differentiated HCC cell line (HAK-1B) established from a single nodule with histological heterogeneity. 24325739 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.050 Biomarker disease BEFREE The functional role of the TCF-4 isoforms was evaluated in OUMS-29 (an immortalized hepatocyte-derived) and HAK-1A (a well-differentiated HCC) cell lines using stable clones overexpressing the TCF-4 isoforms. 23648141 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.050 Biomarker disease BEFREE These findings suggest that HAK-2 is a new human HCC cell line representing two morphological characteristics; (1) formation of various structures in the presence of extracellular matrix and (2) frequent spontaneous apoptosis in vitro. 9436038 1997
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.050 AlteredExpression disease BEFREE Because little is known about CD44 in human hepatocellular carcinoma (HCC), we investigated its expression in tissue specimens from primary lesions (12 cases), in smear specimens from peritoneal effusions (2 cases), and in cell lines (HCC cell lines, KIM-1, KYN-1, KYN-2, KYN-3, HAK-1A, and HAK-1B; combined hepatocholangiocarcinoma cell lines, KMCH-1 and KMCH-2; and bile duct carcinoma cell lines, KMC-1 and KMBC). 7537711 1995
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.050 Biomarker disease BEFREE Furthermore, we predict that a clonal, morphologically less differentiated subpopulation such as HAK-1B is more aggressive in proliferation and may be closely related to subsequent tumor progression in hepatocellular carcinoma. 8393423 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Alpha-kinase 2 (ALPK2), suggested to be a novel tumour-suppressor gene down-regulated by oncogenic KRAS, plays a pivotal role in luminal apoptosis in normal colonic crypts. 28668886 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE In a nude mice xenograft model, the HAK-1A-derived TCF-4C clone rapidly developed tumours compared with the TCF-4D clone. 23648141 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE HAK-1B/Cap43 also showed decreased tumor growth rates as compared with its control counterpart in vivo. 21775055 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Morphologically, HAK-1A and 1B resembled well-differentiated hepatocellular carcinoma cells in the outer layer of the original tumor and poorly differentiated ones in the inner layer, respectively. 8393423 1993
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation group BEFREE We identified that one of the ALPK2 germline variants, rs55674018 (rs55674018" genes_norm="115701">p.Q1853E), was significantly associated with the presence of cancer (adjusted odds ratio(OR)=4.39; 95% confidence interval(CI)=1.31-14.78, p=0.001). 28668886 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation group BEFREE We identified that one of the ALPK2 germline variants, rs55674018 (rs55674018" genes_norm="115701">p.Q1853E), was significantly associated with the presence of cancer (adjusted odds ratio(OR)=4.39; 95% confidence interval(CI)=1.31-14.78, p=0.001). 28668886 2017
CUI: C0028259
Disease: Nodule
Nodule
0.020 Biomarker phenotype BEFREE We used a well-differentiated HCC cell line (HAK-1A) and a poorly differentiated HCC cell line (HAK-1B) established from a single nodule with histological heterogeneity. 24325739 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE HAK-3 would be useful in studies on the acceleration mechanisms of cancer cell proliferation by growth factors and of chemotaxis by dHGF. 10493947 1999
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE HAK-3 would be useful in studies on the acceleration mechanisms of cancer cell proliferation by growth factors and of chemotaxis by dHGF. 10493947 1999
CUI: C0028259
Disease: Nodule
Nodule
0.020 GeneticVariation phenotype BEFREE We established two distinct human hepatocellular carcinoma cell lines (HAK-1A and 1B) from a single nodule showing a three-layered structure with a different histological grade in each layer. 8393423 1993
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation disease BEFREE The aim of this study was to determine the association between ALPK2 germline variants and colorectal cancer. 28668886 2017
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation disease BEFREE The aim of this study was to determine the association between ALPK2 germline variants and colorectal cancer. 28668886 2017
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.010 Biomarker disease BEFREE HAK-1B arose because of clonal dedifferentiation of HAK-1A. 24325739 2014
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 AlteredExpression disease BEFREE miRNA-214 is related to invasiveness of human non-small cell lung cancer and directly regulates alpha protein kinase 2 expression. 23929716 2013