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: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement
phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 2 2013 2013
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement
phenotype Laboratory Procedure 16 36 0.100 None 1.000 1 5 2019 2019
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test)
phenotype Laboratory Procedure 55 427 0.100 None 1.000 1 11 2013 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 2 2018 2018
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.010 None 1.000 1 2018 2018
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 67 0.010 None 1.000 1 2018 2018
CUI: C0178417
Disease: Anhedonia
Anhedonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 7 0.010 None 1.000 1 2017 2017
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: 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: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.010 None 1.000 1 2019 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.010 None 1.000 1 2019 2019
CUI: C0041228
Disease: African Trypanosomiasis
African Trypanosomiasis
disease Infections Disease or Syndrome 55 2 0.010 None 1.000 1 2017 2017
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia
disease Nervous System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2009 2009
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 126 72 0.010 None 1.000 1 2018 2018
CUI: C0920233
Disease: Pisa syndrome
Pisa syndrome
disease Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 82 66 0.010 None 1.000 1 2017 2017
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom
phenotype Sign or Symptom 86 21 0.010 None 1.000 1 2017 2017
CUI: C0038506
Disease: Stuttering
Stuttering
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 8 0.010 None 1.000 1 2019 2019
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 80 5 0.010 None 1.000 1 2017 2017
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: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2009 2009
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2018 2018
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 40 13 0.010 None 1.000 1 2018 2018
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2017 2017