Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023343
Disease: Leprosy
Leprosy 		0.410 Biomarker disease CTD_human Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. 25642632 2015
CUI: C0023343
Disease: Leprosy
Leprosy 		0.410 Biomarker disease BEFREE Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. 25642632 2015
CUI: C0023343
Disease: Leprosy
Leprosy 		0.410 GeneticVariation disease GWASCAT Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. 25642632 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
CUI: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.100 GeneticVariation disease GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.100 GeneticVariation disease GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269 2015
CUI: C0009319
Disease: Colitis
Colitis 		0.010 Biomarker disease BEFREE These findings suggest that CCDC88B has a critical function in colon inflammation and the pathogenesis of IBD.Hook-related protein family member CCDC88b is encoded by a locus that has been associated with inflammatory bowel disease. 29030607 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 AlteredExpression disease BEFREE Here the authors show that Ccdc88b inactivation in T cells prevents colitis in a transfer model, and detect high colonic levels of CCDC88b in patients with Crohn disease or ulcerative colitis, identifying that expression correlates with disease risk. 29030607 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 AlteredExpression disease BEFREE Here the authors show that Ccdc88b inactivation in T cells prevents colitis in a transfer model, and detect high colonic levels of CCDC88b in patients with Crohn disease or ulcerative colitis, identifying that expression correlates with disease risk. 29030607 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 Biomarker group BEFREE These findings suggest that CCDC88B has a critical function in colon inflammation and the pathogenesis of IBD.Hook-related protein family member CCDC88b is encoded by a locus that has been associated with inflammatory bowel disease. 29030607 2017
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		0.010 GeneticVariation group BEFREE The human CCDC88B gene maps to the 11q13 locus that is associated with susceptibility to several inflammatory and auto-immune disorders. 25403443 2014