rs443198, NOTCH4

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.800 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.800 GeneticVariation GWASDB Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.800 GeneticVariation GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
Pemphigus Vulgaris
CUI: C0030809
Disease: Pemphigus Vulgaris
0.700 GeneticVariation GWASDB Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris. 22437316 2012
Congenital arteriovenous malformation
0.010 GeneticVariation BEFREE The association between rs443198_TT and AVM bleeding remained significant in the multivariate regression analysis. 27231971 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE Univariate analysis indicated that rs443198_TT and rs915895_AA genotypes both were significantly associated with hemorrhage and that an rs1109771_GG genotype was associated with epilepsy. 27231971 2017