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: C0085669
Disease: Acute leukemia
Acute leukemia
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2019 2019
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
disease Neoplasms Neoplastic Process 159 15 0.010 None 1.000 1 2013 2013
Acute panmyelosis with myelofibrosis
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2015 2015
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 1989 1989
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2019 2019
Arrhythmogenic Right Ventricular Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 82 136 0.010 None 1.000 1 2018 2018
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.010 None 1.000 1 2017 2017
CUI: C0085624
Disease: Burning sensation
Burning sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 30 0.030 None 1.000 3 2017 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2004 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2004 2004
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2012 2012
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2012 2012
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.030 None 1.000 3 2012 2018
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome
disease Disease or Syndrome 54 2 0.010 None 1.000 1 2020 2020
Deficiency of glucose-6-phosphate dehydrogenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 75 20 0.010 None 1.000 1 2017 2017
CUI: C1153706
Disease: Endometrial adenocarcinoma
Endometrial adenocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 212 5 0.010 None 1.000 1 2004 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2005 2005
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.010 None 1.000 1 1994 1994
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 2018 2018
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 2018 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2019 2019
Malignant neoplasm of colon stage IV
disease Digestive System Diseases; Neoplasms Neoplastic Process 108 7 0.010 None 1.000 1 2000 2000
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2018 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2011 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.030 None 1.000 3 2018 2019