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: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.750 definitive 1.000 5 1 1999 2019
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 0.120 None 1.000 2 1 2008 2012
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 820 101 0.110 None 1.000 1 2007 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3131 968 0.100 None 1.000 7 1997 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 128 13 0.030 None 1.000 2 2007 2008
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 182 29 0.020 None 1.000 2 2011 2016
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 244 21 0.020 None 1.000 2 2002 2011
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 492 59 0.020 None 1.000 2 2005 2005
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 937 50 0.020 None 1.000 2 2005 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.020 None 1.000 1 2007 2018
CUI: C0011389
Disease: Dental Plaque
Dental Plaque 		phenotype Stomatognathic Diseases Disease or Syndrome 27 0.010 None 1.000 1 2011 2011
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 2006 2006
CUI: C1720983
Disease: Channelopathies
Channelopathies 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 8 0.010 None 1.000 1 2005 2005
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 122 10 0.010 None 1.000 1 2002 2002
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2011 2011
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2013 2013
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 41 3 0.010 None 1.000 1 1996 1996
CUI: C3281160
Disease: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 		disease Disease or Syndrome 7 0.010 None 1.000 1 2014 2014
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 103 3 0.010 None 1.000 1 2014 2014
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 245 17 0.010 None 1.000 1 2005 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327 0.010 None 1.000 1 2013 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 942 39 0.010 None 1.000 1 2008 2008
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2255 155 0.010 None 1.000 1 2009 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 1952 751 0.010 None 1.000 1 2004 2004
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 67 5 0.010 None 1.000 1 2005 2005