Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
0.310 Biomarker disease BEFREE Long suspected to be a genetic disorder on the basis of familial aggregation studies, recent genome-wide association studies uncovered strong association between 7 genetic loci (LOXL1, CACNA1A, FLT1-POMP, TMEM136-ARHGEF12, AGPAT1, RBMS3, and SEMA6A) and increased risk of XFS. 29965897 2018
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome
0.310 Biomarker disease CTD_human Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 28553957 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.150 GeneticVariation disease GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.150 Biomarker disease BEFREE Expression of the RNA-binding protein HnRNP-L was previously shown to associate with tumorigenesis in liver and lung cancer. 28038443 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.150 Biomarker disease BEFREE We selected seven genes (CRP, GPC5, ACTA2, AGPHD1, SEC14L5, RBMS3, and GKN1) that previously reported link to lung cancer (LC) and genotyped single nucleotide polymorphisms (SNPs) of these genes in a case-control study. 25999661 2015
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.150 Biomarker disease BEFREE Here we identify the RNA-binding protein QKI as a key regulator of alternative splicing in lung cancer. 24722255 2014
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.150 Biomarker disease BEFREE alpha CP-4 is an RNA-binding protein coded by PCBP4, a gene mapped to 3p21, a common deleted region in lung cancer. 15205328 2004
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.150 GeneticVariation disease BEFREE L523S, an RNA-binding protein as a potential therapeutic target for lung cancer. 12644826 2003
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.110 Biomarker disease BEFREE Targeting an RNA-Binding Protein Network in Acute Myeloid Leukemia. 30799057 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.110 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE Mutations in the gene encoding the RNA-binding protein TDP-43 cause amyotrophic lateral sclerosis (ALS), clinically and pathologically indistinguishable from the majority of 'sporadic' cases of ALS, establishing altered TDP-43 function and distribution as a primary mechanism of neurodegeneration. 30290270 2019
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE RNA-Binding Protein HuR Regulates Both Mutant and Wild-Type IDH1 in IDH1-Mutated Cancer. 30266754 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.100 GeneticVariation disease GWASCAT Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. 30804561 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The RNA binding protein 3 (RBMS3) acts as a tumor suppressor in various cancers. 30819235 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Human embryonic lethal abnormal visual-like protein, HuR, belongs to a member of the Hu family of RNA-binding protein and plays a critical role in urinary tumors. 30370480 2019
Aspartate aminotransferase measurement
0.100 GeneticVariation phenotype GWASCAT Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers. 30589442 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 Biomarker phenotype BEFREE We found that the expression levels of the hub genes CDC45, CDCA5, GINS2, RAD51 and TROAP in the turquoise module increased gradually during tumorigenesis, whereas those of MAGI2-AS3 and RBMS3 in the green module decreased during tumorigenesis. 30887286 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE RNA-Binding Protein HuR Regulates Both Mutant and Wild-Type IDH1 in IDH1-Mutated Cancer. 30266754 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE TDP-43 is an RNA-binding protein active in splicing that concentrates into membraneless ribonucleoprotein granules and forms aggregates in amyotrophic lateral sclerosis (ALS) and Alzheimer's disease. 29438978 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Mutations in <i>Matrin 3</i> (<i>MATR3</i>), a poorly understood DNA- and RNA-binding protein, cause familial ALS/FTD, and MATR3 pathology is a feature of sporadic disease, suggesting that MATR3 dysfunction is integrally linked to ALS pathogenesis. 30015619 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE RNA‑binding protein‑mediated post‑transcriptional regulation is important in the initiation and development of cancer. 29658587 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Finally, luciferase reporter assays and RNA-binding protein immunoprecipitation assays suggest that this is due to MEX3B binding to the 3' untranslated region (UTR) of <i>HLA-A</i> to destabilize the mRNA.<b>Conclusions:</b> MEX3B mediates resistance to cancer immunotherapy by binding to the 3' UTR of <i>HLA-A</i> to destabilize the <i>HLA-A</i> mRNA and thus downregulate HLA-A expression on the surface of tumor cells, thereby making the tumor cells unable to be recognized and killed by T cells.<i>Clin Cancer Res; 24(14); 3366-76. 29496759 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The RNA-Binding Protein PCBP1 Functions as a Tumor Suppressor in Prostate Cancer by Inhibiting Mitogen Activated Protein Kinase 1. 30078000 2018