Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement
0.100 GeneticVariation group GWASCAT Genome-Wide Meta-analysis of Gene-Environmental Interaction for Insulin Resistance Phenotypes and Breast Cancer Risk in Postmenopausal Women. 30327367 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE Among these dysregulated RNAs, three DELs (AP002478.1, HTR2A-AS1, and ERVMER61-1) and six DEGs (enhancer of zeste homolog 2 [<i>EZH2</i>], kinesin family member 23 [<i>KIF23</i>], chromobox 2 [<i>CBX2</i>], centrosomal protein 55 [<i>CEP55</i>], cell division cycle 25A [<i>CDC25A</i>], and claspin [<i>CLSPN</i>]) were used for construct a prognostic signature for HCC overall survival (OS), and performed well in HCC OS (adjusted <i>P</i><0.0001, adjusted hazard ratio = 2.761, 95% confidence interval = 1.838-4.147). 31289599 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker group BEFREE The duplication region contains two Refseq genes, PLA2G4A and C1orf99, which have not been reported to be implicated in craniofacial malformation. 23312528 2013
CUI: C0302142
Disease: Deformity
Deformity
0.010 Biomarker group BEFREE The duplication region contains two Refseq genes, PLA2G4A and C1orf99, which have not been reported to be implicated in craniofacial malformation. 23312528 2013