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: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		disease Cardiovascular Diseases Disease or Syndrome 7 14 0.800 None 1.000 28 14 2004 2017
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		disease Cardiovascular Diseases Disease or Syndrome 14 5 0.500 None 1.000 20 3 2005 2019
CUI: C1855739
Disease: Indifference to Pain, Congenital, Autosomal Recessive
Indifference to Pain, Congenital, Autosomal Recessive 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23 11 0.800 None 0.950 20 11 2004 2018
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 0.600 limited 1.000 19 2004 2018
CUI: C0391976
Disease: Pain Disorder
Pain Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 41 3 0.100 None 1.000 19 1 2004 2019
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 9 0.800 None 1.000 19 9 2004 2018
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 25 0.700 None 1.000 12 25 1979 2014
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy 		disease Nervous System Diseases Disease or Syndrome 35 8 0.200 None 1.000 10 3 2012 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.360 limited 1.000 9 2 2004 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 63 32 0.570 None 1.000 9 2006 2020
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 28 0.400 None 1.000 9 21 1979 2014
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.070 None 1.000 7 2006 2020
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.060 None 1.000 6 2006 2012
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.150 None 1.000 5 3 2009 2020
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 46 81 0.110 None 1.000 2 3 2018 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.020 None 1.000 2 2018 2019
CUI: C3178789
Disease: Widespread Chronic Pain
Widespread Chronic Pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 19 12 0.310 None 0.500 2 1 2011 2012
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.110 None 1.000 1 1 2013 2013
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None < 0.001 1 2008 2008
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None 1.000 1 2018 2018
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.110 None 1.000 1 1 2013 2013
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 38 0.010 None 1.000 1 2012 2012
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 9 0.300 None 1.000 1 2013 2013
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.300 None 1.000 1 2010 2010
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2016 2016