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: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 65 3 0.010 None 1.000 1 2015 2015
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.010 None 1.000 1 2017 2017
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 236 14 0.010 None 1.000 1 2010 2010
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2018 2018
CUI: C0236792
Disease: Asperger Syndrome
Asperger Syndrome 		disease Mental Disorders Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2007 2007
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Mental or Behavioral Dysfunction 158 34 0.010 None 1.000 1 2012 2012
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1480 182 0.010 None 1.000 1 2016 2016
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 127 4 0.010 None 1.000 1 2012 2012
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 755 16 0.010 None 1.000 1 2016 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 942 39 0.010 None 1.000 1 2017 2017
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease Nervous System Diseases Disease or Syndrome 16 2 0.010 None 1.000 1 2016 2016
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype Mental Disorders Mental or Behavioral Dysfunction 407 90 0.010 None 1.000 1 2017 2017
CUI: C0236791
Disease: Childhood disintegrative disorder
Childhood disintegrative disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2015 2015
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 442 91 0.010 None 1.000 1 2016 2016
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 711 165 0.010 None 1.000 1 2012 2012
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 45 11 0.010 None 1.000 1 2018 2018
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease Nervous System Diseases Disease or Syndrome 20 6 0.010 None 1.000 1 2012 2012
CUI: C0795878
Disease: Monosomy 22
Monosomy 22 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.010 None 1.000 1 2012 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1368 223 0.010 None 1.000 1 2017 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 124 14 0.010 None 1.000 1 2020 2020
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2011 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.010 None 1.000 1 2016 2016
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.010 None 1.000 1 2005 2005
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2002 2002