Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteitis Deformans
CUI: C0029401
Disease: Osteitis Deformans
0.010 GeneticVariation BEFREE Here, we identified two nonsynonymous single nucleotide polymorphisms (SNPs) (C421T, H141Y and T575C, V192A) in the TNFRSF11A gene, associated with PDB and with the severity of phenotype in a large population of 654 unrelated patients that were previously screened for SQSTM1 gene mutations. 21987421 2012