Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
0.010 GeneticVariation BEFREE Diseases associated with the RNF213 gene include moyamoya disease, with the p.R4810K (c.14429G>A, rs112735431) homozygous variant thought to be the most pathogenic and significantly associated with severe manifestation such as early onset or cerebral infarction at onset. 31806452 2020