C1QTNF6, C1q and TNF related 6, 114904

N. diseases: 33; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624 2015
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease BEFREE A marker at one other locus, C1QTNF6, previously associated with T1D, showed nominal association with RA in the current study but did not remain statistically significant at the corrected threshold. 20854658 2010
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease GWASDB Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.410 Biomarker disease CTD_human Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		0.300 Biomarker disease CTD_human Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes 		0.300 Biomarker disease CTD_human Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		0.300 Biomarker disease CTD_human Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C4554117
Disease: Diabetes Mellitus, Sudden-Onset
Diabetes Mellitus, Sudden-Onset 		0.300 Biomarker disease CTD_human Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 GeneticVariation disease BEFREE We found both the rs229527 allele within C1QTNF6 (odds ratio [OR] = 1.23, confidence interval [95% CI]: 1.12-1.33, p<sub>Allelic</sub> = 4.60 × 10<sup>-6</sup>) and the rs2284038 allele within RAC2 (OR = 1.10, 95% CI: 1.01-0.19, p<sub>Allelic</sub> = 3.00 × 10<sup>-2</sup>) showed significant associations with GD susceptibility. 28665696 2017
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 GeneticVariation disease BEFREE In this study, we carried out a three-stage study in 9529 patients with GD and 9984 controls to identify new risk loci for GD and found genome-wide significant associations in the overall populations for five novel susceptibility loci: the GPR174-ITM2A at Xq21.1, C1QTNF6-RAC2 at 22q12.3-13.1, SLAMF6 at 1q23.2, ABO at 9q34.2 and an intergenic region harboring two non-coding RNAs at 14q32.2 and one previous indefinite locus, TG at 8q24.22 (Pcombined < 5 × 10(-8)). 23612905 2013
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 GeneticVariation disease GWASDB Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. 23612905 2013
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.120 GeneticVariation disease GWASCAT Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. 23612905 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.100 GeneticVariation disease GWASCAT Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. 27723757 2016
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 GeneticVariation disease GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011