Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.020 GeneticVariation BEFREE We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. 31818681 2020
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.020 GeneticVariation BEFREE Accumulating studies have reported that there is an association between the Ring finger protein 213 (RNF213) p.R4810K (rs112735431, c.14576G>A) single nucleotide polymorphism and the predisposition of moyamoya disease (MMD), intracranial major artery stenosis/occlusion (ICASO), quasi-moyamoya disease (quasi-MMD), and other vascular diseases. 29752070 2018