FBXO38, F-box protein 38, 81545

N. diseases: 24; N. variants: 1
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: C3888271
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID 		disease Nervous System Diseases Disease or Syndrome 1 1 0.700 None 1.000 1 1 2013 2013
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		disease Nervous System Diseases Disease or Syndrome 8 2 0.300 None 1.000 1 2013 2013
CUI: C1854023
Disease: Spinal muscular atrophy, Jerash type
Spinal muscular atrophy, Jerash type 		disease Nervous System Diseases Disease or Syndrome 5 5 0.300 None 1.000 1 2013 2013
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 99 2 0.100 None 0
CUI: C1837323
Disease: Decreased Achilles reflex
Decreased Achilles reflex 		phenotype Finding 7 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1858729
Disease: Decreased motor nerve conduction velocity
Decreased motor nerve conduction velocity 		phenotype Finding 41 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		phenotype Finding 18 0.100 None 0
CUI: C4024921
Disease: Lower limb amyotrophy
Lower limb amyotrophy 		phenotype Finding 19 4 0.100 None 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0
CUI: C1834536
Disease: Weakness of the intrinsic hand muscles
Weakness of the intrinsic hand muscles 		phenotype Finding 21 0.100 None 0
CUI: C0560346
Disease: Difficulty running
Difficulty running 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 38 3 0.100 None 0
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 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: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 0.100 None 0
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2015 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2018 2018
CUI: C3661519
Disease: Hereditary Motor Neuronopathy
Hereditary Motor Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2019 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2018 2018
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 8 0.010 None 1.000 1 2013 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2019 2019