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: C4539843
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 		disease Disease or Syndrome 1 2 0.600 moderate 1.000 2 2 2017 2019
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.300 moderate 1.000 1 2019 2019
CUI: C0424688
Disease: Small head
Small head 		phenotype Finding 11 1 0.100 None 0
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		phenotype Finding 14 0.100 None 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		phenotype Finding 15 0.100 None 0
CUI: C1844906
Disease: Broad finger
Broad finger 		phenotype Finding 17 0.100 None 0
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes 		phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		phenotype Finding 19 0.100 None 0
CUI: C4023683
Disease: EEG with spike-wave complexes
EEG with spike-wave complexes 		phenotype Finding 23 1 0.100 None 0
CUI: C4049830
Disease: Focal seizures, afebril
Focal seizures, afebril 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C0041960
Disease: Ureterocele
Ureterocele 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 26 1 0.100 None 0
CUI: C1855106
Disease: Neonatal onset
Neonatal onset 		phenotype Finding 27 0.100 None 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 3 0.100 None 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 34 4 0.100 None 0
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.100 None 0
CUI: C0239594
Disease: Short finger
Short finger 		phenotype Finding 37 1 0.100 None 0
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		phenotype Finding 39 3 0.100 None 0
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype Finding 52 9 0.100 None 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.010 None 1.000 1 2017 2017
CUI: C1860787
Disease: DOWN SYNDROME CRITICAL REGION
DOWN SYNDROME CRITICAL REGION 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 0.020 None 0.500 2 2000 2001
CUI: C0009024
Disease: Clonus
Clonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 60 4 0.100 None 0
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype Mental Disorders Finding 73 6 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0