UFSP2, UFM1 specific peptidase 2, 55325

N. diseases: 30; N. variants: 2
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		0.400 GeneticVariation disease UNIPROT Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		0.400 CausalMutation disease CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		0.400 CausalMutation disease CLINVAR Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 21228277 2011