Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COMPLEMENT COMPONENT 2 DEFICIENCY
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
0.700 GeneticVariation CLINVAR Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. 1577763 1992
COMPLEMENT COMPONENT 2 DEFICIENCY
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
0.700 CausalMutation CLINVAR