Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.300 Biomarker disease CTD_human Hepatic regulation of VLDL receptor by PPARβ/δ and FGF21 modulates non-alcoholic fatty liver disease. 29289645 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.300 Biomarker disease CTD_human Hepatic regulation of VLDL receptor by PPARβ/δ and FGF21 modulates non-alcoholic fatty liver disease. 29289645 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0002889
Disease: Anemia, Microangiopathic
Anemia, Microangiopathic 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.300 Biomarker phenotype CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker phenotype CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker disease CTD_human Heme-regulated eIF2α kinase plays a crucial role in protecting erythroid cells against Pb-induced hemolytic stress. 25411909 2015
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.300 Biomarker disease CTD_human MicroRNA and mRNA expression profiling in rat acute respiratory distress syndrome. 25070658 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 GeneticVariation disease UNIPROT
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.090 GeneticVariation disease BEFREE Aberrant function of the CCHCR1 gene (Coiled-Coil alpha-Helical Rod protein 1, HCR) within the PSORS1 locus may contribute to the onset of psoriasis. 19551138 2009
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.090 GeneticVariation disease BEFREE Presence of psoriatic arthritis was more pronounced in HCR- psoriasis (as well as in Cw6- psoriasis). 17340018 2007
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.090 Biomarker disease BEFREE With two rounds of the method and five single nucleotide polymorphisms, molecular haplotypes of 29.3 kb spanning the HCR and CDSN genes, two genes associated with the susceptibility of psoriasis, of 11 members, belonging to a CEPH family, were revealed. 16134125 2005
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.090 GeneticVariation disease BEFREE Expression studies using Affymetrix arrays suggested that the HCR risk allele has specific functional consequences relevant to the pathogenesis of psoriasis. 15190014 2004
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.090 GeneticVariation disease BEFREE We aimed to determine whether the genetic polymorphisms of the HCR gene, SNPs n.7*A, and n.9*C were associated with an increased risk of psoriasis in Chinese patients. 15214895 2004
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.090 AlteredExpression disease BEFREE To understand better the function of HCR, we studied how HCR expression is altered in hyperproliferative skin diseases other than psoriasis and in cancers. 14675183 2003