UFSP2, UFM1 specific peptidase 2, 55325

N. diseases: 30; N. variants: 2
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0544755
Disease: Genu varum
Genu varum
phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
Avascular necrosis of the capital femoral epiphysis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia
disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.110 None 1.000 2 1 2011 2018
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
disease Disease or Syndrome 1 1 0.400 None 1.000 2 1 2011 2018
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 6 0.710 None 1.000 2 2 2015 2018