Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.300 Biomarker disease CTD_human Exome sequencing identifies GRIN2A as frequently mutated in melanoma. 21499247 2011
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.110 GeneticVariation disease GWASCAT Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. 27527254 2016
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
0.110 GeneticVariation disease BEFREE We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>). 27527254 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C4522123
Disease: Nerve Growth Factor Measurement
Nerve Growth Factor Measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323 2017
Aspartate aminotransferase measurement
0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies protein quantitative trait loci (pQTLs). 18464913 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation disease BEFREE Particularly, in the exhaustive genome-wide epistasis screening we identified AD-associated interacting SNPs-pair from chromosome 6q11.1 (rs6455128, the KHDRBS2 gene) and 13q12.11 (rs7989332, the CRYL1 gene) (p = 0.006, corrected for multiple testing). 24958192 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation disease BEFREE We performed high-resolution array comparative genomic hybridization analysis of lung adenocarcinoma in sixty never smokers and identified fourteen new minimal common regions (MCR) of gain or loss, of which five contained a single gene (MOCS2, NSUN3, KHDRBS2, SNTG1 and ST18).One larger MCR of gain contained NSD1. 21151896 2010