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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.050 None 1.000 5 2012 2016
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.020 None 1.000 2 2013 2013
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
disease Neoplasms Neoplastic Process 91 8 0.020 None 1.000 2 2011 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.020 None 1.000 2 1996 2009
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.020 None 1.000 2 1996 2009
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.020 None 1.000 2 2012 2013
CUI: C2939461
Disease: Myeloid neoplasm
Myeloid neoplasm
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 62 5 0.020 None 1.000 2 2015 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 282 29 0.020 None 1.000 2 2016 2017
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia
disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2015 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2002 2002
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 220 37 0.010 None 1.000 1 2016 2016
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.010 None 1.000 1 2016 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2018 2018
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2015 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2020 2020
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2018 2018
Childhood Langerhans Cell Histiocytosis
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.010 None 1.000 1 2018 2018
CUI: C3544204
Disease: Borderline mucinous tumour of ovary
Borderline mucinous tumour of ovary
disease Neoplastic Process 1 0.010 None 1.000 1 2013 2013
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2015 2015
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.300 None 1.000 1 2011 2011
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.010 None 1.000 1 2016 2016
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 1996 1996
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
disease Nervous System Diseases Disease or Syndrome 48 17 0.010 None 1.000 1 1996 1996
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 61 0.300 None 1.000 1 2008 2008