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.
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
disease Congenital Abnormality 85 16 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2006 2006
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2010 2010
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2015 2015
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.310 None 1.000 1 2010 2010
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2010 2010
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
phenotype Finding 125 8 0.100 None 0
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe
disease Anatomical Abnormality 32 0.100 None 0
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 24 1 0.100 None 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2010 2010
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2014 2014
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.010 None 1.000 1 2017 2017
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0013132
Disease: Drooling
Drooling
phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.100 None 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.310 None 1.000 2 2010 2015
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2010 2010