Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.100 GeneticVariation disease GWASCAT Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis. 29559693 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		0.100 GeneticVariation group GWASCAT Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. 28585551 2017
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASDB Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus 		0.010 Biomarker disease BEFREE Estrogen degrades Scribble in endometrial epithelial cells through E3 ubiquitin ligase HECW1 in the development of diffuse adenomyosis. 31616916 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Itch is a HECT type E3 ubiquitin ligase that is required to prevent the development of autoimmune disease in both mice and humans. 31126634 2019
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		0.010 AlteredExpression disease BEFREE And HECW1 mRNA expression had a significant inverse correlation with Gd-IgA1 levels in IgAN patients (r= -0.34, p = .03). 31057023 2019
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 AlteredExpression disease BEFREE HECW2, a HECT-type E3 ubiquitin ligase, is transcriptionally upregulated in HeLa cells expressing Emery-Dreifuss muscular dystrophy-causing-lamin A mutants. 29753763 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE These findings suggest that RNF43 is associated with p53-mediated apoptosis in collaboration with NEDL1 in colorectal carcinogenesis. 21108931 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE WWP1, a HECT type E3 ubiquitin ligase frequently amplified and overexpressed in breast cancer, has the potential to become a useful clinical biomarker and therapeutic target in breast cancer. 19267401 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE WWP1, a HECT type E3 ubiquitin ligase frequently amplified and overexpressed in breast cancer, has the potential to become a useful clinical biomarker and therapeutic target in breast cancer. 19267401 2009