Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043094
Disease: Weight Gain
Weight Gain 		0.300 Biomarker phenotype CTD_human Different transcriptional control of metabolism and extracellular matrix in visceral and subcutaneous fat of obese and rimonabant treated mice. 19030233 2008
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 GeneticVariation disease GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 Biomarker disease BEFREE ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. 25637523 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0005890
Disease: Body Height
Body Height 		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 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.100 GeneticVariation disease GWASCAT A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. 29891935 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 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: 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 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. 28073927 2017
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. 29235454 2017
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. 25637523 2015
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.020 Biomarker disease BEFREE To investigate the association between the additive effects of genetic variants associated with intraocular pressure (IOP) and IOP, vertical cup-to-disc ratio (VCDR), and high tension glaucoma (HTG) or normal tension glaucoma (NTG) as phenotypic features of primary open-angle glaucoma (POAG), and to evaluate the clinical usefulness of the additive effects of IOP-related genetic variants for predicting IOP elevation, Japanese patients with HTG (n = 255) and NTG (n = 261) and 246 control subjects were genotyped for nine IOP-related genetic variants near CAV2, GAS7, GLCCI1/ICA1, ABCA1, ARHGEF12, FAM125B, FNDC3B, ABO, and PTPRJ/AGBL2. 28832686 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 Biomarker disease BEFREE LARG silence inhibited RhoA/ROCK pathway and CRC cell invasion. 26258642 2015
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		0.020 Biomarker disease BEFREE In conclusion, this study identified a novel association between IOP and ARHGEF12. 25637523 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE LARG silence inhibited RhoA/ROCK pathway and CRC cell invasion. 26258642 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE TGF-β regulates LARG and GEF-H1 during EMT to affect stiffening response to force and cell invasion. 25143398 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease BEFREE Enforced expression of LARG in breast and colorectal cancer cells by stable transfection resulted in reduced cell proliferation and colony formation, as well as in a markedly slower cell migration rate in colorectal cancer cells, providing functional evidence for LARG as a candidate tumor suppressor gene. 19734946 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE There is no evidence in the Caucasian KORA study that variants of the LARG gene confer susceptibility for T2DM, insulin sensitivity, or the MetS. 17766704 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 Biomarker disease BEFREE The LARG gene maps to a region on chromosome 11q23-24 that shows genetic linkage to BMI and type 2 diabetes in Pima Indians. 16644711 2006