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: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.020 None 1.000 2 2011 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2011 2011
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 2012 2012
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2015 2015
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.010 None 1.000 1 2015 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.050 None 1.000 5 2008 2019
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.320 None 1.000 3 2005 2019
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.020 None 1.000 2 2008 2019
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 71 9 0.020 None 1.000 2 2015 2018
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 48 17 0.020 None 1.000 2 2008 2019
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
disease Nervous System Diseases Disease or Syndrome 3 4 0.700 None 1.000 2 3 2008 2011
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.100 None 1.000 1 2 2011 2011
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases
group Nervous System Diseases Disease or Syndrome 156 5 0.010 None 1.000 1 2017 2017
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.200 None 1.000 1 2011 2011
CUI: C0018213
Disease: Graves Disease
Graves Disease
disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.100 None 1.000 1 1 2012 2012
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2019 2019
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2011 2011
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.010 None 1.000 1 2018 2018
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.010 None 1.000 1 2017 2017
Robinow syndrome, autosomal recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 8 0.200 None 1.000 1 2014 2014
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
disease Disease or Syndrome 2 1 0.200 None 1.000 1 2014 2014
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
disease Disease or Syndrome 2 1 0.200 None 1.000 1 2014 2014
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 46 3 0.200 None 0
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.100 None 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 0