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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2017 2017
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 7 2012 2012
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.010 None 1.000 1 2017 2017
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.030 None 1.000 3 2017 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2019 2019
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections 		group Infections Disease or Syndrome 237 12 0.010 None 1.000 1 2019 2019
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 46 17 0.010 None 1.000 1 2012 2012
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.020 None 1.000 2 1997 2000
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.210 None 1.000 1 2012 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.010 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2017 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2013 2013
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2013 2013
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.200 None 1.000 1 2012 2012
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2017 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 1997 1997
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2017 2017
CUI: C1997217
Disease: Low grade glioma
Low grade glioma 		disease Neoplasms Neoplastic Process 85 10 0.010 None 1.000 1 2012 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.400 None 0
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 0
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 0