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: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2017 2017
CUI: C0018081
Disease: Gonorrhea
Gonorrhea 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 261 7 0.010 None 1.000 1 2011 2011
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 170 178 0.010 None 1.000 1 2011 2011
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.010 None 1.000 1 2020 2020
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2001 2001
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2017 2017
CUI: C1854657
Disease: Limb fasciculations
Limb fasciculations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 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: C1864716
Disease: Intrinsic hand muscle atrophy
Intrinsic hand muscle atrophy 		phenotype Finding 11 0.100 None 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		phenotype Musculoskeletal Diseases Finding 23 5 0.100 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: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype Finding 27 4 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
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: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 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: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		phenotype Finding 8 0.100 None 0
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: C4021650
Disease: Short third metatarsal
Short third metatarsal 		phenotype Anatomical Abnormality 3 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: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		phenotype Finding 10 3 0.100 None 0