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: C1846278
Disease: MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 5 0.020 None 1.000 2 2019 2020
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 10 8 0.010 None 1.000 1 2002 2002
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		disease Nervous System Diseases Disease or Syndrome 14 4 0.010 None < 0.001 1 2019 2019
CUI: C0036429
Disease: Sclerosis
Sclerosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2003 2003
CUI: C0206769
Disease: Nevi and Melanomas
Nevi and Melanomas 		group Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 2003 2003
CUI: C0035112
Disease: Reoviridae Infections
Reoviridae Infections 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 1984 1984
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease 		group Infections; Animal Diseases Disease or Syndrome 56 0.010 None 1.000 1 2018 2018
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 59 63 0.030 None 1.000 3 2004 2018
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2004 2004
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 0.300 None 1.000 1 2004 2004
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 69 0.300 None 1.000 1 2004 2004
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 71 0.300 None 1.000 1 2004 2004
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 74 68 0.010 None 1.000 1 2016 2016
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 75 0.300 None 1.000 1 2004 2004
CUI: C0270823
Disease: Petit mal status
Petit mal status 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 0.300 None 1.000 1 2004 2004
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 1994 1994
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2007 2007
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0.300 None 1.000 1 2007 2007
CUI: C3665593
Disease: Melanocytic nevus of skin
Melanocytic nevus of skin 		disease Neoplasms Neoplastic Process 103 3 0.010 None 1.000 1 2003 2003
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 2009 2009
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		group Infections Disease or Syndrome 145 0.020 None 1.000 2 1989 1990
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.200 None 1.000 2 2010 2013
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None < 0.001 1 1995 1995
CUI: C0872084
Disease: Sarcopenia
Sarcopenia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.200 None 1.000 1 2004 2004
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.300 None 1.000 1 2006 2006