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: C0454600
Disease: Extrapyramidal dysarthria
Extrapyramidal dysarthria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0586392
Disease: Parkinsonian tremor
Parkinsonian tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 0.010 None 1.000 1 2019 2019
CUI: C1857277
Disease: Donnai-Barrow syndrome
Donnai-Barrow syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 18 0.010 None 1.000 1 2008 2008
CUI: C3536587
Disease: Grand mal status epilepticus, refractory
Grand mal status epilepticus, refractory 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1536088
Disease: Positive myoclonus
Positive myoclonus 		phenotype Sign or Symptom 3 0.010 None 1.000 1 2019 2019
CUI: C4049471
Disease: End stage Parkinson's disease
End stage Parkinson's disease 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0236801
Disease: Phobia, Specific
Phobia, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2017 2017
CUI: C0920233
Disease: Pisa syndrome
Pisa syndrome 		disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0264162
Disease: Camptocormia
Camptocormia 		disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.010 None 1.000 1 2017 2017
CUI: C0221169
Disease: Hemiballismus
Hemiballismus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 7 0.010 None 1.000 1 2018 2018
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 2 2013 2013
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		disease Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2009 2009
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		phenotype Laboratory Procedure 16 36 0.100 None 1.000 1 5 2019 2019
CUI: C0029001
Disease: Onchocerciasis
Onchocerciasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		disease Nervous System Diseases Disease or Syndrome 19 5 0.010 None 1.000 1 2018 2018
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		disease Nervous System Diseases Disease or Syndrome 19 29 0.010 None 1.000 1 2019 2019
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 21 12 0.010 None 1.000 1 2019 2019
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 42 0.030 None 1.000 3 2005 2019
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 23 13 0.020 None 1.000 2 2017 2019
CUI: C2939186
Disease: Disturbance in mood
Disturbance in mood 		disease Mental Disorders Mental or Behavioral Dysfunction 26 2 0.010 None 1.000 1 2018 2018
CUI: C0158945
Disease: Congenital cytomegalovirus infection
Congenital cytomegalovirus infection 		disease Infections Disease or Syndrome 29 7 0.020 None 1.000 2 2004 2019
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 29 7 0.010 None 1.000 1 2008 2008
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		disease Neoplasms; Nervous System Diseases Congenital Abnormality 29 0.010 None 1.000 1 2019 2019
CUI: C0265987
Disease: Nevus comedonicus
Nevus comedonicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 6 0.010 None 1.000 1 2016 2016