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: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2018 2018
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2001 2001
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2018 2018
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 423 112 0.010 None 1.000 1 2019 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2019 2019
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 221 82 0.010 None 1.000 1 2019 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2019 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 2019 2019
CUI: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None 1.000 1 2018 2018
CUI: C0018834
Disease: Heartburn
Heartburn 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.010 None 1.000 1 2018 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2018 2018
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2018 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2018 2018
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 316 42 0.010 None 1.000 1 2018 2018
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0