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: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.100 None 1.000 33 5 2006 2019
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: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 21 1 1995 2016
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: C0014804
Disease: Erythromelalgia
Erythromelalgia
disease Cardiovascular Diseases Disease or Syndrome 14 5 0.500 None 1.000 20 3 2005 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: C0391976
Disease: Pain Disorder
Pain Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 41 3 0.100 None 1.000 19 1 2004 2019
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
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: 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
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: 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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.150 None 1.000 5 2005 2020
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: 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: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders
group Nervous System Diseases Disease or Syndrome 73 7 0.020 None 1.000 2 1 2013 2014
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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.020 None 1.000 2 2005 2007
Hereditary Sensory and Autonomic Neuropathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.020 None 1.000 2 2008 2013
CUI: C0030201
Disease: Pain, Postoperative
Pain, Postoperative
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 102 14 0.020 None 1.000 2 1 2013 2016
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: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype Nervous System Diseases Sign or Symptom 60 12 0.110 None 1.000 1 2013 2013