FKBP14, FKBP prolyl isomerase 14, 55033

N. diseases: 60; N. variants: 5
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.
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
disease Disease or Syndrome 7 5 0.720 None 1.000 5 5 2012 2018
CUI: C0268342
Disease: Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 4 14 0.300 strong 1.000 1 2016 2016
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.120 None 0.500 2 2018 2019
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 151 2 0.110 None 1.000 1 2014 2014
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.110 None 1.000 1 2014 2014
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.110 None 1.000 1 2014 2014
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2012 2012
CUI: C1836038
Disease: Poor head control
Poor head control
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C0266544
Disease: Microcornea
Microcornea
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 10 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
phenotype Finding 50 11 0.100 None 0
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.100 None 0
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype Finding 30 46 0.100 None 0 1
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
Congenital muscular dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.100 None 0 1
CUI: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0155760
Disease: Rupture of artery
Rupture of artery
disease Disease or Syndrome 5 0.100 None 0
High-frequency sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0019270
Disease: Hernia
Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0