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 Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 12 1.000 strong 1.000 26 12 1997 2019
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 81 0.600 strong 1.000 2 2 1997 2009
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 4 0.400 disputed 1.000 3 2004 2009
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 142 0.340 None 1.000 4 1 2009 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2011 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.300 None 1.000 1 2013 2013
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.300 None 1.000 1 2014 2014
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 45 0.300 None 1.000 1 2013 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.210 None 1.000 2 2006 2012
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 1.000 11 3 2004 2018
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy
disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 645 213 0.200 None 1.000 2 2011 2012
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2010 2010
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.200 None 1.000 1 2012 2012
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion
disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 76 15 0.200 None 1.000 1 2011 2011
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 8 0.200 None 1.000 1 2014 2014
CUI: C0018776
Disease: Hearing Loss, Central
Hearing Loss, Central
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 0.200 None 1.000 1 2014 2014
CUI: C0042164
Disease: Uveitis
Uveitis
disease Eye Diseases Disease or Syndrome 247 43 0.200 None 1.000 1 2007 2007
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy
disease Nervous System Diseases Disease or Syndrome 19 1 0.200 None 1.000 1 2013 2013
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease Digestive System Diseases Disease or Syndrome 282 21 0.200 None 1.000 1 2011 2011
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex
disease Nervous System Diseases Disease or Syndrome 3 0.200 None 1.000 1 2019 2019
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.200 None 1.000 1 2012 2012
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.120 None 1.000 2 1 2013 2018
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.120 None 1.000 2 2013 2018
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 58 11 0.110 None 1.000 1 2018 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.110 None 1.000 1 2 2011 2011