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: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.100 None 0
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		disease Nervous System Diseases Disease or Syndrome 11 6 0.300 None 0
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.100 None 0
CUI: C0751120
Disease: Benign Infantile Myoclonic Epilepsy
Benign Infantile Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0
CUI: C1260880
Disease: Rhinorrhea
Rhinorrhea 		phenotype Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 19 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype Finding 62 0.100 None 0
CUI: C1846620
Disease: Hemiclonic seizures
Hemiclonic seizures 		phenotype Nervous System Diseases Finding 5 0.100 None 0
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		phenotype Finding 11 0.100 None 0
CUI: C1837602
Disease: Painless fractures due to injury
Painless fractures due to injury 		phenotype Finding 8 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		phenotype Behavior and Behavior Mechanisms Finding 18 1 0.100 None 0
CUI: C1833225
Disease: Dystrophic toenail
Dystrophic toenail 		phenotype Finding 18 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.100 None 0
CUI: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 11 0.300 None 0
CUI: C0344232
Disease: Blurred vision
Blurred vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 28 2 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0338479
Disease: Symptomatic Myoclonic Epilepsy
Symptomatic Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0
CUI: C0338478
Disease: Idiopathic Myoclonic Epilepsy
Idiopathic Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 0