UFSP2, UFM1 specific peptidase 2, 55325

N. diseases: 30; N. variants: 2
Disease: Spondyloepimetaphyseal disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.010 GeneticVariation disease BEFREE Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018