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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2018 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.010 None 1.000 1 2018 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.010 None 1.000 1 2018 2018
CUI: C0685898
Disease: Food anaphylaxis
Food anaphylaxis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2018 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2018 2018
CUI: C0018099
Disease: Gout
Gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.010 None 1.000 1 2018 2018
CUI: C0860040
Disease: BCG infection
BCG infection 		disease Disease or Syndrome 37 0.010 None 1.000 1 2018 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2018 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.100 None 0.900 20 1989 2017
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.100 None 0.895 19 1989 2017
CUI: C0005699
Disease: Blast Phase
Blast Phase 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.100 None 1.000 18 1 1987 2017
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.260 None 1.000 7 1 2002 2017
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.070 None 1.000 7 2004 2017
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.060 None 0.833 6 2000 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.050 None 1.000 5 2004 2017
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.030 None 1.000 3 2004 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.030 None 1.000 3 1993 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.010 None 1.000 1 2017 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 2017 2017
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		disease Digestive System Diseases; Infections Disease or Syndrome 451 27 0.010 None 1.000 1 2017 2017
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 172 4 0.010 None 1.000 1 2017 2017
CUI: C0206659
Disease: Embryonal Carcinoma
Embryonal Carcinoma 		disease Neoplasms Neoplastic Process 165 0.010 None 1.000 1 2017 2017
CUI: C0221248
Disease: Tophus
Tophus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2017 2017