Source: CURATED ×
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 3 13 0.800 None 1.000 15 13 2004 2017
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 9 0.800 None 1.000 5 9 2004 2018
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 1 10 0.800 None 0.950 4 10 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 1 25 0.700 None 1.000 3 25 1979 2014
CUI: C0002768
Disease: Congenital Pain Insensitivity
Congenital Pain Insensitivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.600 limited 1.000 2 2004 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 0.570 None 1.000 4 2006 2020
CUI: C0014804
Disease: Erythromelalgia
Erythromelalgia 		disease Cardiovascular Diseases Disease or Syndrome 2 0.500 None 1.000 3 2005 2019
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 8 2 0.400 None 1.000 1 2014 2014
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 4 28 0.400 None 1.000 0 21 1979 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.360 limited 1.000 6 2004 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.350 None 1.000 1 2007 2018
CUI: C0150055
Disease: Chronic pain
Chronic pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1 2 0.320 None 1.000 1 2011 2018
CUI: C3178789
Disease: Widespread Chronic Pain
Widespread Chronic Pain 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.310 None 0.500 1 2011 2012
CUI: C0423712
Disease: Neuralgia, Iliohypogastric Nerve
Neuralgia, Iliohypogastric Nerve 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2009 2009
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.300 limited 1.000 1 2004 2004
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 40 0.300 strong 1.000 1 2015 2015
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.300 limited 1.000 1 2004 2004
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease Nervous System Diseases Disease or Syndrome 2 392 0.300 moderate 1.000 1 2013 2013
CUI: C0751372
Disease: Nerve Pain
Nerve Pain 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2009 2009
CUI: C0751373
Disease: Paroxysmal Nerve Pain
Paroxysmal Nerve Pain 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2009 2009
CUI: C0423711
Disease: Neuralgia, Perineal
Neuralgia, Perineal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2009 2009
CUI: C0751371
Disease: Neuralgia, Ilioinguinal
Neuralgia, Ilioinguinal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.300 None 1.000 1 2009 2009
CUI: C0038870
Disease: Neuralgia, Supraorbital
Neuralgia, Supraorbital 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2009 2009
CUI: C0019372
Disease: Herpesviridae Infections
Herpesviridae Infections 		group Infections Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
CUI: C0042656
Disease: Neuralgia, Vidian
Neuralgia, Vidian 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 0.300 None 1.000 1 2009 2009