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: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
disease Disease or Syndrome 51 6 0.010 1.000 1 1 2013 2013
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
disease Nervous System Diseases Disease or Syndrome 1 0.010 1.000 1 2011 2011
Malformations of Cortical Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 98 2 0.010 1.000 1 2014 2014
CUI: C2349453
Disease: Familial migraine
Familial migraine
disease Disease or Syndrome 7 0.010 1.000 1 2009 2009
CUI: C2930868
Disease: Rasmussen subacute encephalitis
Rasmussen subacute encephalitis
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 1 0.010 1.000 1 1 2008 2008
CUI: C0243026
Disease: Sepsis
Sepsis
disease Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms Disease or Syndrome 528 63 0.010 1.000 1 2011 2011
CUI: C0234533
Disease: Generalized seizures
Generalized seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 125 4 0.010 1.000 1 2017 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.010 1.000 1 2007 2007
CUI: C0233397
Disease: Psychological symptom
Psychological symptom
phenotype Sign or Symptom 16 7 0.010 1.000 1 1 2014 2014
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
disease Disease or Syndrome 47 14 0.010 1.000 1 2004 2004
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 66 14 0.010 1.000 1 2004 2004
Severe mental retardation (I.Q. 20-34)
disease Mental or Behavioral Dysfunction 223 19 0.010 1.000 1 2010 2010
CUI: C0036690
Disease: Septicemia
Septicemia
disease Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms Disease or Syndrome 467 63 0.010 1.000 1 2011 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.010 1.000 1 2014 2014
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplastic Process 1104 100 0.010 1.000 1 2008 2008
CUI: C1857230
Disease: DISORGANIZATION, MOUSE, HOMOLOG OF
DISORGANIZATION, MOUSE, HOMOLOG OF
disease Finding 12 1 0.010 1.000 1 2010 2010
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.010 1.000 1 1 2014 2014
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 42 39 0.010 1.000 1 2014 2014
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 108 0.010 1.000 1 2004 2004
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 37 0.010 1.000 1 2006 2006
CUI: C0701811
Disease: Poor short-term memory
Poor short-term memory
disease Mental or Behavioral Dysfunction 2 1 0.010 1.000 1 1 2013 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.010 1.000 1 2003 2003
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.010 1.000 1 2008 2008
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
phenotype Neoplastic Process 233 2 0.010 < 0.001 1 2012 2012
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 6 0.010 1.000 1 2015 2015