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: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 2011 2011
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
Adenylosuccinate lyase deficiency (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 2 28 0.010 None 1.000 1 2012 2012
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2011 2011
CUI: C1332182
Disease: Adult Anaplastic Large Cell Lymphoma
Adult Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 128 2 0.020 None 1.000 2 2000 2000
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		group Chemically-Induced Disorders Pathologic Function 87 0.300 None 1.000 1 2006 2006
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2004 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
CUI: C0376288
Disease: Amaurosis
Amaurosis 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2004 2004
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2017 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2017 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2017 2017
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.300 None 1.000 1 2004 2004
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2004 2004
CUI: C0339730
Disease: Blindness, Acquired
Blindness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2004 2004
CUI: C0221473
Disease: Blindness, Hysterical
Blindness, Hysterical 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Mental or Behavioral Dysfunction 3 0.300 None 1.000 1 2004 2004
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2004 2004
CUI: C0750958
Disease: Blindness, Monocular
Blindness, Monocular 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2004 2004
CUI: C0155003
Disease: Blindness, Transient
Blindness, Transient 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 3 0.300 None 1.000 1 2004 2004
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 2015 2018
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None < 0.001 1 2016 2016
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2017 2017