FKBP10, FKBP prolyl isomerase 10, 60681

N. diseases: 86; N. variants: 14
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: C3151218
Disease: OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XI
disease Disease or Syndrome 1 3 0.630 strong 1.000 4 3 2012 2018
CUI: C1859709
Disease: Kuskokwim disease
Kuskokwim disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C3839326
Disease: Kuskokwim syndrome
Kuskokwim syndrome
disease Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C1850168
Disease: Bruck syndrome 1
Bruck syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 8 0.700 strong 1.000 5 8 2010 2013
CUI: C1836602
Disease: Bruck syndrome 2
Bruck syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 4 0.300 None 1.000 3 2012 2013
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII
disease Disease or Syndrome 3 5 0.100 None 0 4
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome
disease Disease or Syndrome 6 0.400 None 0.938 16 2011 2018
CUI: C1695776
Disease: Vertebral wedging
Vertebral wedging
disease Anatomical Abnormality 8 0.100 None 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli
disease Anatomical Abnormality 10 2 0.100 None 0
Osteogenesis imperfecta type IV (disorder)
disease Disease or Syndrome; Congenital Abnormality 12 65 0.300 None 1.000 2 2011 2015
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies
phenotype Finding 16 0.100 None 0
Osteogenesis imperfecta type III (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 18 67 0.320 None 1.000 4 2011 2015
CUI: C0235889
Disease: Arthritis aggravated
Arthritis aggravated
disease Musculoskeletal Diseases Disease or Syndrome 19 0.010 None 1.000 1 2017 2017
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 20 1 0.100 None 0
Compression fracture of vertebral column
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.040 None 1.000 4 2011 2013
CUI: C0019553
Disease: Hip Contracture
Hip Contracture
disease Musculoskeletal Diseases Acquired Abnormality 34 0.100 None 0
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.110 None 1.000 1 2011 2011
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
disease Musculoskeletal Diseases Anatomical Abnormality 36 0.030 None 1.000 3 2014 2017
Increased susceptibility to fractures
phenotype Finding 42 5 0.100 None 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
disease Anatomical Abnormality 42 0.100 None 0
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius
phenotype Finding 45 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: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones
phenotype Congenital Abnormality 63 5 0.100 None 0