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: 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 0.700 moderate 0.987 75 11 1993 2019
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 22 0.770 None 1.000 42 22 1985 2018
CUI: C1842983
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 17 0.910 None 1.000 9 17 1985 2017
CUI: C1842197
Disease: Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Recessive Intermediate A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 7 0.700 None 1.000 6 7 1985 2005
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.040 None 1.000 4 2002 2019
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 42 3 0.030 None 1.000 3 2002 2007
CUI: C0751576
Disease: Partial Paralysis (Paresis) Vocal Cords
Partial Paralysis (Paresis) Vocal Cords 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.130 None 1.000 3 2002 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2005 2017
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.120 None 1.000 2 1 2011 2013
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		disease Nervous System Diseases Disease or Syndrome 59 13 0.020 None 1.000 2 1 2016 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2005 2017
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease Disease or Syndrome 93 21 0.020 None 1.000 2 2003 2008
CUI: C1843183
Disease: Charcot-Marie-Tooth disease, Type 4A, axonal form
Charcot-Marie-Tooth disease, Type 4A, axonal form 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 3 0.700 None 1.000 2 3 2003 2005
CUI: C2932678
Disease: Inherited Peripheral Neuropathy
Inherited Peripheral Neuropathy 		disease Nervous System Diseases Disease or Syndrome 14 0.020 None 1.000 2 2011 2013
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2005 2017
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.010 None 1.000 1 2017 2017
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 2016 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 1.000 1 1 2013 2013
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.200 None 1.000 1 2015 2015
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.010 None 1.000 1 1999 1999
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2015 2015
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.110 None 1.000 1 1 2005 2005
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.200 None 1.000 1 2015 2015
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.010 None 1.000 1 2012 2012
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2011 2011