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: C0848332
Disease: Spots on skin
Spots on skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2004 2004
CUI: C0376286
Disease: Avitaminosis
Avitaminosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1 2008 2008
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2018 2018
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 1 2014 2014
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 1 2013 2013
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 1 2012 2012
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2008 2008
CUI: C0030353
Disease: Papilledema
Papilledema
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 35 1 0.010 None 1.000 1 2019 2019
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G
disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 93 21 0.010 None 1.000 1 2011 2011
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 1 2018 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.010 None 1.000 1 2012 2012
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.010 None 1.000 1 2012 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None < 0.001 1 1 2014 2014
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary
disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.010 None 1.000 1 2008 2008
CUI: C0747845
Disease: early pregnancy
early pregnancy
phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2007 2007
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None < 0.001 1 2 2012 2012
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2015 2015
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
disease Endocrine System Diseases Disease or Syndrome 335 131 0.010 None 1.000 1 2012 2012
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 1 2008 2008
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.010 None 1.000 1 1 2015 2015
CUI: C0025281
Disease: Meniere Disease
Meniere Disease
disease Otorhinolaryngologic Diseases Disease or Syndrome 69 36 0.010 None 1.000 1 1 2013 2013
CUI: C0553573
Disease: Primary infertility
Primary infertility
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 1 2015 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.010 None < 0.001 1 1 2016 2016
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 1 2008 2008