Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride. 26763881 2016
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774 2014
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774 2014
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic
0.100 GeneticVariation disease GWASDB Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. 23989729 2013
Low density lipoprotein cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic
0.100 GeneticVariation disease GWASDB Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. 22306654 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.100 GeneticVariation phenotype GWASCAT Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.100 GeneticVariation phenotype GWASDB Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
Soluble Transferrin Receptor Measurement
0.100 GeneticVariation phenotype GWASCAT Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. 21149283 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE Also, in vivo tumor therapy experiments demonstrated that the longest survival period along with the greatest downregulation of EGFR expression in tumor tissues was observed in mice with an intracranial U87 glioma treated with T7-LPC/siEGFR NPs compared with mice receiving other formulations. 27374198 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Furthermore, the experiments of in vivo tumor therapy confirmed that intravenous administration of T7-LPC/siEGFR NPs led to an effective EGFR down-regulation and an obvious inhibition of breast tumor growth, with little activation of immune responses and negligible body weight loss. 27355138 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Thus, it was concluded that LPC-T is an effective carrier for passive targeting of the pulmonary tissue, treatment of Renca-induced pulmonary metastases, and local administration of Renca cell SC tumors. 15194050 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE As a first step towards elucidating the role that pro-protein convertases play in the growth regulation of breast cancer, we studied the gene expression of 6 known human convertase members (PC1/PC3, PC2, furin/PACE, PACE4, PC5/PC6 and PC7/LPC) in human breast cancer tumors and cell lines. 9185698 1997
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.030 Biomarker disease BEFREE MERTK and PCSK7 SNPs were not associated with liver fibrosis or cirrhosis. 28338112 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.030 Biomarker disease BEFREE MERTK and PCSK7 SNPs were not associated with liver fibrosis or cirrhosis. 28338112 2017
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.030 Biomarker disease BEFREE MERTK and PCSK7 SNPs were not associated with liver fibrosis or cirrhosis. 28338112 2017
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.030 GeneticVariation disease BEFREE We evaluated PCSK7 alleles and genotypes frequencies according to single or grouped staging scores: absent/mild fibrosis (stage: 0-2), moderate (stage: 3-4), and severe fibrosis/cirrhosis (stage: 5-6). 26868056 2016