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: C0349530
Disease: Early gastric cancer
Early gastric cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 100 2 0.020 None 1.000 2 2019 2019
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.020 None 1.000 2 2019 2019
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
disease Neoplasms Disease or Syndrome 18 10 0.020 None 1.000 2 2019 2019
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.020 None 1.000 2 2019 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.020 None 1.000 2 2019 2019
Precursor B-cell lymphoblastic lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 3 0.020 None 1.000 2 2019 2019
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia
disease Neoplastic Process 110 1 0.020 None 1.000 2 2019 2019
CUI: C1412036
Disease: Anal squamous cell carcinoma
Anal squamous cell carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 39 0.020 None 1.000 2 2019 2020
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.020 None 1.000 2 2019 2019
CUI: C4288754
Disease: Metastatic urothelial carcinoma
Metastatic urothelial carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 28 0.020 None 1.000 2 2019 2019
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic
disease Neoplasms Disease or Syndrome 11 0.010 None < 0.001 1 2019 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.010 None 1.000 1 2019 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.010 None 1.000 1 2019 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2019 2019
CUI: C0005956
Disease: Bone Marrow Diseases
Bone Marrow Diseases
group Hemic and Lymphatic Diseases Disease or Syndrome 84 3 0.010 None 1.000 1 2019 2019
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
group Neoplasms; Musculoskeletal Diseases Neoplastic Process 151 4 0.010 None 1.000 1 2019 2019
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
group Nervous System Diseases Disease or Syndrome 345 10 0.010 None 1.000 1 2019 2019
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.010 None 1.000 1 2019 2019
CUI: C0007361
Disease: Cat-Scratch Disease
Cat-Scratch Disease
disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0007462
Disease: Causalgia
Causalgia
disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 27 0.010 None 1.000 1 2019 2019
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 252 90 0.010 None 1.000 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2019 2019
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None < 0.001 1 2019 2019