Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HIP DYSPLASIA, BEUKES TYPE
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
0.700 CausalMutation CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018