ATXN2L, ataxin 2 like, 11273

N. diseases: 30; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.100 GeneticVariation disease GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 AlteredExpression disease BEFREE The lower apo A-I levels in patients with coronary artery disease reflect a decrease in Lp A-I. 8462177 1993
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 Biomarker disease BEFREE We conclude that a selective upregulation of apo A-I production is one metabolic cause of FHA, and results in high plasma concentrations of HDL cholesterol, apo A-I, and Lp A-I and possibly in protection from atherosclerotic CHD. 8231838 1993
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 AlteredExpression disease BEFREE The lower apo A-I levels in patients with coronary artery disease reflect a decrease in Lp A-I. 8462177 1993
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE ATXN2L promoted GC cell migration and invasion via epithelial to mesenchymal transition, yet no influence on proliferation was detected by ATXN2L interference. 30787271 2019
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		0.010 Biomarker disease BEFREE Fusion of the genes ataxin 2 like, <i>ATXN2L</i>, and Janus kinase 2, <i>JAK2</i>, in cutaneous CD4 positive T-cell lymphoma. 29262599 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE ATXN2L promoted GC cell migration and invasion via epithelial to mesenchymal transition, yet no influence on proliferation was detected by ATXN2L interference. 30787271 2019
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.010 GeneticVariation disease BEFREE The proband of a kindred with FHA and possible longevity was found to have elevated plasma levels of HDL cholesterol, apolipoprotein (apo) A-I, and lipoproteins containing apo A-I without apo A-II (Lp A-I), but normal levels of apo A-II and lipoproteins containing apo A-I with apo A-II (Lp A-I:A-II). 8231838 1993
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 AlteredExpression disease BEFREE The lower apo A-I levels in patients with coronary artery disease reflect a decrease in Lp A-I. 8462177 1993
CUI: C0005910
Disease: Body Weight
Body Weight 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals. 29520040 2019