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: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 10 19 0.800 0.929 96 19 1978 2017
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 13 0.760 1.000 30 12 1978 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 383 57 0.700 strong 0.943 39 9 1993 2018
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
disease Eye Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 9 0.700 13 9 1962 2015
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 9 0.630 1.000 24 9 1978 2016
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 6 0.620 1.000 39 6 1978 2016
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
disease Disease or Syndrome 1 9 0.600 10 9 2002 2015
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
disease Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 67 0.600 1 2 2015 2015
Chronic progressive external ophthalmoplegia
disease Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 51 5 0.500 0.966 40 3 2002 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.500 0.933 18 3 2004 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.500 0.900 11 2007 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.450 0.800 6 2008 2015
Diffuse Cerebral Sclerosis of Schilder
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.400 0.958 29 3 2005 2015
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 172 10 0.400 2 2010 2011
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 128 3 0.400 2 2010 2011
CUI: C0021364
Disease: Male infertility
Male infertility
disease Male Urogenital Diseases Disease or Syndrome 262 72 0.370 0.571 8 2004 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.320 1.000 3 2011 2018
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 335 91 0.320 1.000 2 2005 2007
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.320 strong 1.000 2 2011 2016
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 98 86 0.310 1.000 2 2 2009 2013
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 297 104 0.310 strong 1.000 1 2008 2008
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
disease Disease or Syndrome 1 22 0.300 14 22 2001 2006
EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY
disease Disease or Syndrome 1 9 0.300 10 9 2003 2016
EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY
disease Disease or Syndrome 1 9 0.300 10 9 2003 2016
CUI: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 3 2008 2010