Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346388
Disease: Malignant melanoma of choroid
Malignant melanoma of choroid
0.100 GeneticVariation disease GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034 2020
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Adverse effects, not elsewhere classified
0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASCAT Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. 28470677 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.100 GeneticVariation disease GWASCAT Genome-wide association study of survival in patients with pancreatic adenocarcinoma. 23180869 2014
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.100 GeneticVariation disease GWASDB Genome-wide association study of survival in patients with pancreatic adenocarcinoma. 23180869 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE The overexpression of transforming growth factor (TGF)-β stimulated clone-22 (TSC-22) inhibits cancer cell proliferation and induces apoptosis, and TSC-22 is emerging as a key factor in tumorigenesis. 29228668 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE These results reveal an oncogenic role of LDLRAD4 in tumorigenesis through its association with Nedd4. 28888937 2017
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 Biomarker group BEFREE LDLRAD4 was previously identified and shown to be connected with psychiatric disorders. 28888937 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 Biomarker phenotype BEFREE LDLRAD4 was previously identified and shown to be connected with psychiatric disorders. 28888937 2017
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 Biomarker disease BEFREE LDLRAD4 is elevated in hepatic cancer cells and tumor tissues, and expression of LDLRAD4 promotes hepatic cancer cell HepG2 and SMMC-7721 proliferation and migration. 28888937 2017
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.010 Biomarker disease BEFREE LDLRAD4 is elevated in hepatic cancer cells and tumor tissues, and expression of LDLRAD4 promotes hepatic cancer cell HepG2 and SMMC-7721 proliferation and migration. 28888937 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE We previously identified TSC22D2 (transforming growth factor β-stimulated clone 22 domain family, member 2) as a novel cancer-associated gene in a rare multi-cancer family. 27573352 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE We previously identified TSC22D2 (transforming growth factor β-stimulated clone 22 domain family, member 2) as a novel cancer-associated gene in a rare multi-cancer family. 27573352 2016
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
0.010 GeneticVariation disease BEFREE We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM. 26227905 2016