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: C1333125
Disease: combined type small cell lung cancer
combined type small cell lung cancer 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 5 0.010 None 1.000 1 2015 2015
CUI: C0242597
Disease: Leukocyte-Adhesion Deficiency Syndrome
Leukocyte-Adhesion Deficiency Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2004 2004
CUI: C4743661
Disease: Leukocyte Adhesion Deficiency Type 3
Leukocyte Adhesion Deficiency Type 3 		disease Disease or Syndrome 11 3 0.010 None 1.000 1 2007 2007
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.010 None 1.000 1 2019 2019
CUI: C0178238
Disease: Intestinal infectious disease (disorder)
Intestinal infectious disease (disorder) 		group Digestive System Diseases; Infections Disease or Syndrome 34 0.010 None 1.000 1 2019 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2015 2015
CUI: C1257763
Disease: Overnutrition
Overnutrition 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 54 0.010 None 1.000 1 2019 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2018 2018
CUI: C0012833
Disease: Dizziness
Dizziness 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 64 14 0.010 None 1.000 1 2018 2018
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		disease Neoplasms Neoplastic Process 70 2 0.010 None 1.000 1 2018 2018
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.010 None 1.000 1 2004 2004
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.020 None 1.000 2 2010 2013
CUI: C0242723
Disease: Parasitemia
Parasitemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 140 3 0.020 None 1.000 2 2017 2018
CUI: C0162820
Disease: Dermatitis, Allergic Contact
Dermatitis, Allergic Contact 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 151 1 0.010 None 1.000 1 2016 2016
CUI: C4722099
Disease: High grade glioma
High grade glioma 		disease Neoplasms Neoplastic Process 190 15 0.010 None 1.000 1 2013 2013
CUI: C0150055
Disease: Chronic pain
Chronic pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 207 19 0.010 None 1.000 1 2019 2019
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 124 0.010 None 1.000 1 2018 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.010 None 1.000 1 2013 2013
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		disease Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 220 1 0.010 None 1.000 1 2017 2017
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		disease Neoplasms Neoplastic Process 225 9 0.010 None 1.000 1 2005 2005
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 233 10 0.010 None 1.000 1 2018 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.010 None 1.000 1 2018 2018
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		disease Neoplastic Process 240 2 0.010 None 1.000 1 2010 2010
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.010 None 1.000 1 2005 2005
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.010 None 1.000 1 2018 2018