Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Septo-Optic Dysplasia
CUI: C0338503
Disease: Septo-Optic Dysplasia
0.010 GeneticVariation BEFREE We detected 5 PROKR2 variants in 11 patients with SOD/CH: novel p.G371R and previously reported p.A51T, p.R85L, p.L173R, and p.R268C-the latter 3 being known functionally deleterious variants. 23386640 2013