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: C3538999
Disease: DYSTONIA 23
DYSTONIA 23
disease Disease or Syndrome 1 0.500 moderate 1.000 1 2012 2012
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.340 None 0.800 5 2013 2018
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
disease Neoplasms Neoplastic Process 517 25 0.310 None 1.000 1 2007 2007
CUI: C1865819
Disease: CERVICAL DYSTONIA, PRIMARY
CERVICAL DYSTONIA, PRIMARY
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.310 None 1.000 1 2012 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2014 2014
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.300 None 1.000 1 2013 2013
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 28 4 0.300 None 1.000 1 2013 2013
CUI: C1865818
Disease: DYSTONIA 7, TORSION (disorder)
DYSTONIA 7, TORSION (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2014 2014
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.300 None 1.000 1 2013 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 38 1 1983 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 38 3 1983 2017
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: 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: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C0040485
Disease: Torticollis
Torticollis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 55 10 0.100 None 0
CUI: C0086769
Disease: Panic Attacks
Panic Attacks
disease Mental Disorders Mental or Behavioral Dysfunction 59 3 0.100 None 0
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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.100 None 0 1
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: 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
Supraventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 11 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: C4316810
Disease: Writer's Cramp
Writer's Cramp
disease Nervous System Diseases Disease or Syndrome 26 3 0.100 None 0