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: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2015 2015
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		disease Anatomical Abnormality 28 31 0.100 None 1.000 1 1 2013 2013
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 6 6 2015 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 5 6 2015 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 4 3 2015 2019
CUI: C0018810
Disease: heart rate
heart rate 		phenotype Clinical Attribute 36 103 0.100 None 1.000 1 1 2013 2013
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.020 None 1.000 2 2011 2014
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.010 None 1.000 1 2017 2017
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 9 1 2000 2017
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 3 0.720 moderate 1.000 6 3 2004 2019
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		disease Endocrine System Diseases Disease or Syndrome 82 25 0.340 None 1.000 5 2013 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.030 None 1.000 3 3 1995 2013
CUI: C3713420
Disease: Familial Hyperaldosteronism
Familial Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 15 0.030 None 1.000 3 2015 2019
CUI: C3809609
Disease: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 		disease Disease or Syndrome 1 2 0.710 None 1.000 3 2 2013 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2016 2017
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.410 None 1.000 2 2013 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 2 3 2009 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 1 2 2019 2019
CUI: C0007682
Disease: CNS disorder
CNS disorder 		group Nervous System Diseases Disease or Syndrome 319 11 0.010 None 1.000 1 2016 2016
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease Endocrine System Diseases Disease or Syndrome 126 9 0.010 None 1.000 1 2016 2016
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.300 None 1.000 1 2004 2004
CUI: C0013386
Disease: Dyskinesia, Drug-Induced
Dyskinesia, Drug-Induced 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 32 0.200 None 1.000 1 2009 2009
CUI: C0018794
Disease: Heart Block
Heart Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 58 7 0.300 None 1.000 1 2016 2016
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 1995 1995