UFSP2, UFM1 specific peptidase 2, 55325

N. diseases: 30; N. variants: 2
Disease: HIP DYSPLASIA, BEUKES TYPE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.710 GeneticVariation disease BEFREE A unique variant of the ubiquitin-fold modifier 1 (Ufm1)-specific peptidase 2 (UFSP2) gene (c.868T>C) has been reported in all individuals from Beukes family with clinical and radiological diagnosis of Beukes hip dysplasia. 28892125 2018
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.710 CausalMutation disease CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.710 GeneticVariation disease UNIPROT We report a unique UFSP2 mutation that segregates with the BHD phenotype. 26428751 2015
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.710 Biomarker disease GENOMICS_ENGLAND We report a unique UFSP2 mutation that segregates with the BHD phenotype. 26428751 2015
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		0.710 Biomarker disease CTD_human