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: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2014 2014
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: C0009088
Disease: Cluster Headache
Cluster Headache 		disease Nervous System Diseases Disease or Syndrome 38 13 0.010 None 1.000 1 2019 2019
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: C0391976
Disease: Pain Disorder
Pain Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 41 3 0.010 None 1.000 1 2017 2017
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		disease Eye Diseases Disease or Syndrome 44 6 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: 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: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 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
CUI: C2063866
Disease: Depressive Disorder, Treatment-Resistant
Depressive Disorder, Treatment-Resistant 		disease Mental Disorders Mental or Behavioral Dysfunction 66 19 0.030 None 1.000 3 2018 2020
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 2017 2017
CUI: C0021122
Disease: Disruptive, Impulse Control, and Conduct Disorders
Disruptive, Impulse Control, and Conduct Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 67 9 0.010 None 1.000 1 2017 2017
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		phenotype Sign or Symptom 69 23 0.020 None 1.000 2 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: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
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: 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: 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: 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: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 94 67 0.010 None 1.000 1 2018 2018
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.100 None 0.900 10 2017 2019
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.010 None 1.000 1 2013 2013
CUI: C0011206
Disease: Delirium
Delirium 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 110 7 0.010 None 1.000 1 2020 2020
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2019 2019