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: 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
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
disease Disease or Syndrome 1 1 0.400 None 1.000 2 1 2011 2018
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
Delayed ossification of carpal bones
phenotype Finding 12 0.100 None 0
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis
phenotype Finding 11 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly
phenotype Finding 93 3 0.100 None 0
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck
phenotype Finding 7 0.100 None 0
CUI: C1854910
Disease: Shallow acetabular fossae
Shallow acetabular fossae
phenotype Finding 8 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis
disease Anatomical Abnormality 4 0.100 None 0
Abnormality of the epiphysis of the femoral head
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
disease Anatomical Abnormality 22 1 0.100 None 0
Abnormal ossification involving the femoral head and neck
phenotype Finding 3 0.100 None 0
CUI: C4024623
Disease: Wide proximal femoral metaphysis
Wide proximal femoral metaphysis
phenotype Finding 1 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
CUI: C1834975
Disease: Irregular acetabular roof
Irregular acetabular roof
phenotype Finding 3 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease
disease Musculoskeletal Diseases Disease or Syndrome 36 9 0.100 None 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0231712
Disease: Waddling gait
Waddling gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0
Hip joint varus deformity - observation
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 0.100 None 0
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0