Source: BEFREE ×
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: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2217 1332 0.310 None 1.000 1 2016 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 133 33 0.150 None 1.000 5 2014 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.130 None 1.000 3 2015 2017
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 1219 153 0.110 None 1.000 1 2017 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 334 64 0.110 None 1.000 1 2020 2020
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1052 139 0.110 None 1.000 1 2017 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 485 10 0.040 None 1.000 4 2015 2020
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1124 250 0.040 None 1.000 4 2015 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 96 147 0.020 None 1.000 2 2001 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3131 968 0.020 None 1.000 2 2012 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 2991 283 0.010 None 1.000 1 2017 2017
CUI: C0026946
Disease: Mycoses
Mycoses 		group Infections Disease or Syndrome 94 2 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 759 233 0.010 None 1.000 1 2007 2007
CUI: C0006325
Disease: Bruxism
Bruxism 		phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction 9 3 0.010 None 1.000 1 2018 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.010 None 1.000 1 2018 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1083 477 0.010 None 1.000 1 1 2015 2015
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance 		phenotype Disease or Syndrome 47 0.010 None 1.000 1 2019 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy 		group Nervous System Diseases Disease or Syndrome 477 75 0.010 None 1.000 1 2012 2012
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 545 37 0.010 None 1.000 1 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.010 None 1.000 1 2017 2017
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 45 7 0.010 None 1.000 1 2015 2015
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 276 57 0.010 None 1.000 1 1 2009 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2694 1598 0.010 None 1.000 1 1 2013 2013
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 608 206 0.010 None 1.000 1 1 2018 2018