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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 0.982 167 1993 2020
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.300 definitive 1.000 13 2005 2017
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 8 0.300 definitive 1.000 13 2005 2017
Leigh Syndrome due to Mitochondrial Complex III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.300 definitive 1.000 13 2005 2017
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 37 12 0.300 definitive 1.000 13 2005 2017
Leigh Syndrome due to Mitochondrial Complex V Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 13 2005 2017
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 13 2005 2017
Necrotizing encephalopathy, infantile subacute, of Leigh
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 36 0.300 definitive 1.000 13 2005 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 12 2010 2019
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.100 None 1.000 10 2011 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 694 93 0.080 None 1.000 8 2011 2019
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.070 None 1.000 7 2013 2020
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.060 None 0.833 6 1995 2019
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.150 None 1.000 5 2007 2017
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.150 None 1.000 5 2007 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.050 None 1.000 5 2015 2019
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.050 None 1.000 5 2013 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.050 None 1.000 5 2010 2019
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease Disease or Syndrome 36 7 0.050 None 1.000 5 2007 2017
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.030 None 1.000 3 2014 2020
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.030 None 1.000 3 2011 2018
CUI: C3711369
Disease: Succinate-Coa Ligase Deficiency
Succinate-Coa Ligase Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 2 0.220 None 1.000 3 2010 2016
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.030 None 1.000 3 2004 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.030 None 1.000 3 2016 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.030 None 1.000 3 2017 2019