CR2, complement C3d receptor 2, 1380

N. diseases: 123; N. variants: 9
Disease: Lupus Vulgaris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.320 Biomarker disease GENOMICS_ENGLAND CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities. 26325596 2015
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.320 GeneticVariation disease BEFREE These data confirm the effects of rs3813946 on CR2 transcription, identifying the 5' UTR to be a novel regulatory element for the CR2 gene in which variation may alter gene function and modify the development of lupus. 22673213 2012
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.320 GeneticVariation disease BEFREE Single-nucleotide polymorphism 1 (rs3813946), located in the 5' untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus. 17360460 2007