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: C4024943
Disease: Decreased amplitude of sensory action potentials
Decreased amplitude of sensory action potentials 		phenotype Finding 3 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 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: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		phenotype Finding 14 0.100 None 0
CUI: C4021727
Disease: EMG: neuropathic changes
EMG: neuropathic changes 		phenotype Finding 28 5 0.100 None 0
CUI: C4025696
Disease: Paresis of extensor muscles of the big toe
Paresis of extensor muscles of the big toe 		phenotype Finding 4 0.100 None 0
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype Finding 18 0.100 None 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype Finding 19 1 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype Finding 49 11 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		disease Nervous System Diseases Disease or Syndrome 8 2 0.390 None 1.000 9 2 1992 2011
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 484 110 0.020 None 1.000 2 1992 2004
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.200 None 1.000 13 2 2000 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.020 None 1.000 2 2000 2007
CUI: C1834692
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 3 0.700 None 1.000 4 3 2004 2017
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 2004 2004
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.200 None 1.000 10 2 2005 2018
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.050 None 1.000 5 1 2005 2018