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: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 500 6 0.400 1.000 32 1990 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.400 0.963 27 1995 2016
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms
group Neoplasms; Otorhinolaryngologic Diseases; Stomatognathic Diseases Neoplastic Process 88 183 0.400 2 1 2010 2016
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
disease Disease or Syndrome 1 3 0.400 2 3 2010 2016
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 93 1 0.360 1.000 6 1995 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.340 1.000 5 1 2011 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.340 1.000 5 2007 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.330 1.000 4 1 2011 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.330 1.000 4 2011 2014
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.320 1.000 3 2013 2018
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 212 2 0.310 < 0.001 2 2013 2013
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Musculoskeletal Diseases Disease or Syndrome 3 1 0.310 1.000 1 2016 2016
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.300 1 2013 2013
CUI: C0238301
Disease: Cancer of Nasopharynx
Cancer of Nasopharynx
disease Neoplasms; Otorhinolaryngologic Diseases; Stomatognathic Diseases Neoplastic Process 61 1 0.300 1 2010 2010
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.300 1 2013 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.300 1 2013 2013
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2013 2013
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.300 1 2016 2016
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic
disease Neoplasms Neoplastic Process 18 0.300 1 2013 2013
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 100 4 0.200 2 2006 2010
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia
disease Disease or Syndrome 14 2 0.110 1.000 1 2013 2013
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.110 1.000 1 2009 2009
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.100 1.000 67 1992 2018
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.100 0.923 54 1992 2016
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Neoplastic Process 729 12 0.100 0.955 22 1988 2014