Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.300 Biomarker disease CTD_human Flavopiridol induces apoptosis and caspase-3 activation of a newly characterized Burkitt's lymphoma cell line containing mutant p53 genes. 11482875 2002
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma
0.300 Biomarker disease CTD_human Flavopiridol induces apoptosis and caspase-3 activation of a newly characterized Burkitt's lymphoma cell line containing mutant p53 genes. 11482875 2002
CUI: C4721444
Disease: Burkitt Leukemia
Burkitt Leukemia
0.300 Biomarker disease CTD_human Flavopiridol induces apoptosis and caspase-3 activation of a newly characterized Burkitt's lymphoma cell line containing mutant p53 genes. 11482875 2002
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.100 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Platelet mean volume determination (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Platelet Component Distribution Width Measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
0.100 CausalMutation disease CLINVAR
CUI: C3549486
Disease: NOR POLYAGGLUTINATION SYNDROME
NOR POLYAGGLUTINATION SYNDROME
0.100 GeneticVariation disease CLINVAR
CUI: C4023620
Disease: Blood group antigen abnormality
Blood group antigen abnormality
0.100 Biomarker phenotype HPO
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 Biomarker disease BEFREE The ability of proximal tubule cells to internalize filtered proteins over a broad concentration range is essential for maintaining a protein-free urine but also renders these cells uniquely susceptible to cytotoxic damage.Morace et al. find that knockout of globotriaosylceramide synthase, an enzyme required for production of Gb3 and other members of the globo series of glycosphingolipids, impairs endocytic uptake of filtered proteins and preserves kidney function in mouse models of acute kidney injury. 31331463 2019
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.010 Biomarker disease BEFREE These results indicate that α4GnT and αGlcNAc could serve as useful markers not only to distinguish LEGH from NNEG but to evaluate prognoses of GAS patients. 31506488 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 GeneticVariation group BEFREE In addition, mice deficient in A4gnt, which encodes the enzyme α1,4-N-acetylglucosaminyltransferase (α4GnT) that catalyzes αGlcNAc biosynthesis, spontaneously develop gastric differentiated-type adenocarcinoma, even if not infected by H. pylori. 29658052 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Transition of Mesenchymal and Epithelial Cancer Cells Depends on α1-4 Galactosyltransferase-Mediated Glycosphingolipids. 29572228 2018
CUI: C0032617
Disease: Polyuria
Polyuria
0.010 Biomarker phenotype BEFREE Results demonstrate that mTAL dysfunction causes polyuria and renal impairment and contributes to the pathophysiology of Fabry nephropathy.-Maruyama, H., Taguchi, A., Nishikawa, Y., Guili, C., Mikame, M., Nameta, M., Yamaguchi, Y., Ueno, M., Imai, N., Ito, Y., Nakagawa, T., Narita, I., Ishii, S. Medullary thick ascending limb impairment in the Gla<sup>tm</sup>Tg(CAG-A4GALT) Fabry model mice. 29553830 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Transition of Mesenchymal and Epithelial Cancer Cells Depends on α1-4 Galactosyltransferase-Mediated Glycosphingolipids. 29572228 2018