Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.100 GeneticVariation group GWASCAT Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. 28960316 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.100 GeneticVariation group GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.100 GeneticVariation group GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.100 GeneticVariation group GWASCAT Novel Common Genetic Susceptibility Loci for Colorectal Cancer. 29917119 2019
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.100 Biomarker group HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Therefore, our findings suggest that MR-1 functions as a tumor promoter in MCF7 cells by activating the MEK/ERK signaling. 25066297 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE These findings provide compelling evidence that MR-1 might be a diagnostic marker and therapeutic target for solid tumours, myelogenous leukaemia and PNKD. 29103325 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 AlteredExpression group BEFREE The correlation was analyzed between the expression of MR-1 and other tumor characteristics which may influence the prognosis of gastric cancer patients. 23082061 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 Biomarker group BEFREE Silencing MR-1 inhibits cancer cell proliferation and metastasis. 29103325 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE Myofibrillogenesis regulator-1 (MR-1) expression was detected in different malignancies and is associated with poor prognosis. 23696030 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Silencing MR-1 inhibits cancer cell proliferation and metastasis. 29103325 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 AlteredExpression group BEFREE In this study, MR-1 protein expression was determined by immunohistochemistry in specimens of primary cancer and the adjacent noncancerous tissues from gastric cancer patients. 23082061 2012
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 AlteredExpression group BEFREE MR-1S is overexpressed in haematologic and solid malignancies, such as hepatoma, breast cancer and chronic myelogenous leukaemia. 29103325 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.010 GeneticVariation group BEFREE This study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders. 26598494 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.010 Biomarker group BEFREE Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]. 23893446 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 Biomarker group BEFREE Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). 22266882 2011
CUI: C0477360
Disease: Other dystonia
Other dystonia
0.200 Biomarker phenotype MGD
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
0.110 Biomarker phenotype HPO
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
0.110 CausalMutation phenotype CLINVAR
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
0.110 GeneticVariation phenotype BEFREE In addition, six other dystonia gene loci have been mapped to chromosomal regions, including a locus for a mixed dystonia phenotype (DYT6), one form of focal dystonia (DYT7), two types of paroxysmal dystonia (DYT8, DYT9), X-linked dystonia-parkinsonism (DYT3), and rapid-onset dystonia parkinsonism (DYT12). 12194383 1999