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: C0497219
Disease: Hearing complaints (excluding H84-86)
Hearing complaints (excluding H84-86) 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C4022166
Disease: EMG: myokymic discharges
EMG: myokymic discharges 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C4024607
Disease: Exercise-induced leg cramps
Exercise-induced leg cramps 		phenotype Sign or Symptom 1 0.100 None 0
CUI: C4280804
Disease: Percussion-induced rapid rolling muscle contractions
Percussion-induced rapid rolling muscle contractions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 2 0.100 None 0
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		phenotype Anatomical Abnormality 3 2 0.100 None 0
CUI: C4521481
Disease: Pseudomyotonia (finding)
Pseudomyotonia (finding) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 0
CUI: C0751919
Disease: Acquired Neuromyotonia
Acquired Neuromyotonia 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C1868623
Disease: Handgrip myotonia
Handgrip myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 2 0.100 None 0
CUI: C1854657
Disease: Limb fasciculations
Limb fasciculations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		phenotype Finding 8 0.100 None 0
CUI: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		phenotype Finding 9 0.100 None 0
CUI: C1389118
Disease: Peroneal muscle atrophy
Peroneal muscle atrophy 		disease Disease or Syndrome 10 2 0.100 None 0
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		phenotype Finding 10 3 0.100 None 0
CUI: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy 		phenotype Finding 11 0.100 None 0
CUI: C1861063
Disease: TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) 		phenotype Finding 12 0.300 None 1.000 1 2011 2011
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 9 0.800 None 1.000 14 9 2006 2020
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		disease Nervous System Diseases Disease or Syndrome 14 0.300 None 1.000 1 2012 2012
CUI: C0684219
Disease: Myokymia
Myokymia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.100 None 0
CUI: C4024601
Disease: Weakness of long finger extensor muscles
Weakness of long finger extensor muscles 		phenotype Finding 18 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 0.100 None 0
CUI: C0027125
Disease: Myotonia
Myotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 19 7 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: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype Finding 23 1 0.100 None 0 1
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype Musculoskeletal Diseases Finding 23 5 0.100 None 0
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.100 None 0