Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.010 GeneticVariation BEFREE Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. 28337834 2017