UFSP2, UFM1 specific peptidase 2, 55325

N. diseases: 30; N. variants: 2
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
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
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.110 CausalMutation disease CLINVAR Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 28892125 2018
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.110 GeneticVariation disease BEFREE Mutagenesis studies were carried out to provide the structural basis for understanding the loss of catalytic activity observed in a recently identified UfSP2 mutation that is associated with an autosomal dominant form of hip dysplasia. 21228277 2011
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.110 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.100 Biomarker disease HPO
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.100 Biomarker phenotype HPO
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		0.100 Biomarker phenotype HPO
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 Biomarker phenotype HPO
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		0.100 Biomarker disease HPO
CUI: C1834975
Disease: Irregular acetabular roof
Irregular acetabular roof 		0.100 Biomarker phenotype HPO