KY, kyphoscoliosis peptidase, 339855

N. diseases: 39; N. variants: 4
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: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2016 2016
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 0
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.100 None 1.000 1 1 2017 2017
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 1 0.100 None 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		phenotype Finding 22 3 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C0037763
Disease: Spasm
Spasm 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.100 None 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.100 None 1.000 1 1 2017 2017
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.100 None 1.000 1 1 2017 2017
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype Finding 55 3 0.100 None 0
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		phenotype Finding 50 4 0.100 None 0
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		disease Disease or Syndrome 9 0.100 None 0
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019