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: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 9 1.000 1.000 19 9 2000 2014
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease Endocrine System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 24 122 0.540 0.750 4 2009 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.410 strong 1.000 1 2 2012 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1105 745 0.300 1 2014 2014
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.300 1 2014 2014
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 10 0.300 1 2014 2014
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 27 0.300 0
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 659 259 0.210 1.000 2 2006 2013
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.200 1.000 11 2 2004 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.200 1.000 11 2004 2016
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
disease Cardiovascular Diseases; Endocrine System Diseases; Eye Diseases Disease or Syndrome 246 115 0.200 2 2011 2012
Other specified transient cerebral ischemias
disease Disease or Syndrome 154 0.200 1 2011 2011
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 88 1 0.200 1 2012 2012
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion
disease Cardiovascular Diseases; Eye Diseases Disease or Syndrome 22 3 0.200 1 2011 2011
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 129 22 0.200 1 2007 2007
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 26 7 0.200 1 2014 2014
CUI: C0018776
Disease: Hearing Loss, Central
Hearing Loss, Central
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.200 1 2014 2014
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 190 0.200 1 2011 2011
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 16 0.200 1 2014 2014
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.110 1.000 1 2013 2013
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 154 573 0.100 1 1 2011 2011
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 154 573 0.100 1 1 2011 2011
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Finding 4 70 0.100 1 1 2009 2009