Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 AlteredExpression disease BEFREE FGD5 is expressed in a high proportion of breast cancers and lymph node metastases. 30052477 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease BEFREE FGD5 is a new prognostic marker in breast cancer, and increased copy number is associated with higher tumour proliferation and poorer long-term prognosis. 28124285 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 Biomarker disease BEFREE FGD5 is a new prognostic marker in breast cancer, and increased copy number is associated with higher tumour proliferation and poorer long-term prognosis. 28124285 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective. 25151356 2014
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer. 25151356 2014
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 GeneticVariation group GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 GeneticVariation group GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Interethnic analyses of blood pressure loci in populations of East Asian and European descent. 30487518 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017