Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE The Superior Parietal Gyrus (SPG) regions and left paracentral lobule (PCL.L) of FPN has shown increased functional connectivity, the left supramarginal gyrus (SMG.L) regions has shown decreased functional connectivity in AD patients. 31228791 2019
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.010 Biomarker phenotype BEFREE RA patients exhibited significantly less activation in regions related to pain- and somatosensory processing (S1, M1, anterior insula, S2, SMG and MCC) during painful joint stimulation, compared to HC. 31228612 2019
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 Biomarker disease BEFREE The Superior Parietal Gyrus (SPG) regions and left paracentral lobule (PCL.L) of FPN has shown increased functional connectivity, the left supramarginal gyrus (SMG.L) regions has shown decreased functional connectivity in AD patients. 31228791 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Data mining for 5'-end CpG island methylation of TUSC3, ATRNL1, POMT1 and SAMD4A in cancer cell lines and primary tumors showed that the epigenetic defect was commonly observed among different tumor types in association with the diminished expression of the corresponding transcript. 30018746 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Data mining for 5'-end CpG island methylation of TUSC3, ATRNL1, POMT1 and SAMD4A in cancer cell lines and primary tumors showed that the epigenetic defect was commonly observed among different tumor types in association with the diminished expression of the corresponding transcript. 30018746 2018
CUI: C0005944
Disease: Metabolic Bone Disorder
Metabolic Bone Disorder
0.010 Biomarker group BEFREE These findings define SAMD4 as a previously unreported key regulator of osteoblastogenesis and bone development, implying that regulation of protein translation is an important mechanism governing skeletogenesis and that control of protein translation could have therapeutic potential in metabolic bone diseases, such as osteoporosis. 28163927 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE In conclusion, we demonstrated the SMG could improve tumor-suppressive activity of MSC. 28238782 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 Biomarker disease BEFREE These findings define SAMD4 as a previously unreported key regulator of osteoblastogenesis and bone development, implying that regulation of protein translation is an important mechanism governing skeletogenesis and that control of protein translation could have therapeutic potential in metabolic bone diseases, such as osteoporosis. 28163927 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.010 AlteredExpression group BEFREE Smaug/SAMD4A restores translational activity of CUGBP1 and suppresses CUG-induced myopathy. 23637619 2013
CUI: C0030193
Disease: Pain
Pain
0.020 Biomarker phenotype BEFREE RA patients exhibited significantly less activation in regions related to pain- and somatosensory processing (S1, M1, anterior insula, S2, SMG and MCC) during painful joint stimulation, compared to HC. 31228612 2019
CUI: C0030193
Disease: Pain
Pain
0.020 Biomarker phenotype BEFREE Both approaches had a positive result on pain, an effect that was more acute in the SMG versus TMG for all pain scales, with better maintenance at the 3-month follow-up (VAS <i>p</i>=0.005 and <i>p</i>=0.098; Waddell Index <i>p</i>=0.034 and 0.044; McGill total <i>p</i>=0.000 and 0.003). 28461765 2017
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 GeneticVariation disease GWASDB Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk. 23152477 2012
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.100 GeneticVariation group GWASDB A genome-wide association study of circulating galectin-3. 23056639 2012
CUI: C0489786
Disease: Height
Height
0.100 GeneticVariation phenotype GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011
CUI: C0149744
Disease: Oral lesion
Oral lesion
0.100 GeneticVariation phenotype CLINVAR
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.100 GeneticVariation disease CLINVAR
CUI: C0013146
Disease: Drug abuse
Drug abuse
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
Organic Mental Disorders, Substance-Induced
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010