UFSP2, UFM1 specific peptidase 2, 55325

N. diseases: 30; N. variants: 2
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554022725
rs1554022725
Entrez Id: 55325;441054
Gene Symbol: UFSP2;C4orf47
UFSP2;C4orf47
CUI: C4693799
Disease:
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		G 0.800 CausalMutation CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
dbSNP: rs1554022725
rs1554022725
Entrez Id: 55325;441054
Gene Symbol: UFSP2;C4orf47
UFSP2;C4orf47
CUI: C4693799
Disease:
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		0.800 GeneticVariation UNIPROT Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
dbSNP: rs1554022725
rs1554022725
Entrez Id: 55325;441054
Gene Symbol: UFSP2;C4orf47
UFSP2;C4orf47
CUI: C4693799
Disease:
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 		G 0.800 CausalMutation CLINVAR Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 21228277 2011