Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
0.800 CausalMutation CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
0.800 GeneticVariation UNIPROT Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
0.800 CausalMutation CLINVAR Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 21228277 2011