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: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 265 34 0.100 None 0
CUI: C0428975
Disease: Supraventricular Arrhythmia by ECG Finding
Supraventricular Arrhythmia by ECG Finding 		phenotype Laboratory or Test Result 11 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0 1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		phenotype Mental Disorders Mental or Behavioral Dysfunction 192 26 0.100 None 0 1
CUI: C0086769
Disease: Panic Attacks
Panic Attacks 		disease Mental Disorders Mental or Behavioral Dysfunction 59 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 3 0.100 None 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.100 None 0 1
CUI: C0239882
Disease: Head tremor
Head tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 0.100 None 0
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.100 None 0 1
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
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 251 94 0.100 None 0 1
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.100 None 0
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.100 None 0 1
CUI: C1836149
Disease: Axial dystonia
Axial dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.100 None 0
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.100 None 0
CUI: C4022690
Disease: Neck muscle hypertrophy
Neck muscle hypertrophy 		phenotype Finding 1 0.100 None 0
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		disease Disease or Syndrome 2 13 0.100 None 0 1
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0