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: C4521228
Disease: Refractory Acute Lymphoblastic Leukemia
Refractory Acute Lymphoblastic Leukemia 		disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C0280252
Disease: stage, colon cancer
stage, colon cancer 		phenotype Digestive System Diseases; Neoplasms Neoplastic Process 18 2 0.010 None 1.000 1 2010 2010
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2019 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 2019 2019
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.010 None 1.000 1 2006 2006
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.010 None 1.000 1 2014 2014
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease Endocrine System Diseases Disease or Syndrome 57 70 0.010 None 1.000 1 2006 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.010 None 1.000 1 2017 2017
CUI: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2018 2018
CUI: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2019 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2015 2015
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2017 2017
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 74 120 0.010 None 1.000 1 2019 2019
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
Familial Glucocorticoid Deficiency Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 12 18 0.010 None 1.000 1 2007 2007
CUI: C3896960
Disease: Childhood Pre-B Acute Lymphoblastic Leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 3 0.010 None 1.000 1 2015 2015
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 50 67 0.010 None 1.000 1 2015 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2015 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C1306068
Disease: After-cataract
After-cataract 		disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 2017 2017
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None 1.000 1 2019 2019
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 33 0.010 None 1.000 1 2014 2014
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.010 None 1.000 1 2011 2011
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		disease Disease or Syndrome 4 8 0.010 None 1.000 1 2002 2002
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		phenotype Disease or Syndrome 12 0.010 None 1.000 1 1998 1998