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
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: 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
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: 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: 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: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease Cardiovascular Diseases Disease or Syndrome 14 5 0.500 None 1.000 20 3 2005 2019
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: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.400 None 1.000 1 2014 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.360 limited 1.000 9 2 2004 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.350 None 1.000 6 1 2007 2018
CUI: C0150055
Disease: Chronic pain
Chronic pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 19 0.320 None 1.000 3 2011 2018
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: C0037140
Disease: B Virus Infection
B Virus Infection
disease Infections Disease or Syndrome 3 0.300 None 1.000 1 2013 2013
CUI: C0032768
Disease: Postherpetic neuralgia
Postherpetic neuralgia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 24 1 0.300 None 1.000 1 2013 2013
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis
disease Musculoskeletal Diseases Disease or Syndrome 5 0.300 limited 1.000 1 2004 2004
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: 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
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 strong 1.000 1 2015 2015
CUI: C0751372
Disease: Nerve Pain
Nerve Pain
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 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
Hereditary Motor and Sensory-Neuropathy Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.300 None 1.000 1 2013 2013
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 2 0.300 limited 1.000 1 2004 2004
CUI: C0234249
Disease: Neuralgia, Stump
Neuralgia, Stump
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 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