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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
disease Disease or Syndrome 1 9 0.700 strong 1.000 10 9 1988 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
disease Disease or Syndrome 1 4 0.600 None 1.000 1 4 2015 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.330 None 1.000 4 1 2013 2020
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.330 None 1.000 4 2016 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.310 None 1.000 2 2006 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.300 None 1.000 1 2006 2006
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2018 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2018 2018
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2006 2006
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2018 2018
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.200 None 1.000 1 1995 1995
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.130 None 1.000 3 2017 2019
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.130 None 0.667 3 2018 2018
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.130 None 1.000 3 2016 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.120 None 1.000 2 2017 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.120 None 1.000 2 2016 2020
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 0.120 None 1.000 2 2019 2020
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 2 1 2016 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 2 2 2016 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.110 None 1.000 1 2016 2016
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 1 2020 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.974 39 2004 2020
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 10 3 2009 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.900 10 2006 2018
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 1.000 3 2 2012 2016