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: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 1 0.110 None 1.000 1 2011 2011
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
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: 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: C1868117
Disease: POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 7 1 0.100 None 1.000 12 2014 2019
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality 8 1 0.030 None 1.000 3 2013 2017
CUI: C0007398
Disease: Catatonia
Catatonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 13 2 0.010 None 1.000 1 2016 2016
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 1 1.000 definitive 1.000 38 2001 2020
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: C0236792
Disease: Asperger Syndrome
Asperger Syndrome 		disease Mental Disorders Mental or Behavioral Dysfunction 15 2 0.010 None 1.000 1 2007 2007
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: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 17 1 0.030 None 1.000 3 2007 2018
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: C0033046
Disease: Premenstrual syndrome
Premenstrual syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 21 1 0.100 None 1.000 12 2014 2019
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 24 3 0.320 None 1.000 2 2006 2015
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: 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: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 32 0.010 None 1.000 1 2017 2017
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 38 2 0.120 None 1.000 2 2013 2015
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 38 1 0.110 None 1.000 1 2018 2018
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 3 0.330 None 1.000 3 2006 2013
CUI: C2986717
Disease: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 0.010 None 1.000 1 2018 2018
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: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 49 0.010 None 1.000 1 2014 2014
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 56 21 0.010 None 1.000 1 2012 2012