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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 181 20 1.000 1.000 61 3 1996 2018
Congenital amegakaryocytic thrombocytopenia
disease Hemic and Lymphatic Diseases Congenital Abnormality 6 14 1.000 1.000 26 14 1999 2017
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
disease Neoplastic Process 97 5 0.900 1.000 17 3 2007 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
disease Hemic and Lymphatic Diseases Disease or Syndrome 144 18 0.500 1.000 66 4 1996 2017
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplastic Process 232 22 0.500 0.976 46 5 2003 2017
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 52 3 0.500 0.947 23 2 2000 2015
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.460 1.000 6 1 1998 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.410 1.000 2 1 2007 2015
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 206 22 0.400 0.950 22 1 1996 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 340 34 0.400 0.750 12 1998 2018
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2
disease Disease or Syndrome 1 3 0.400 4 3 2004 2015
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 63 0.300 1 2009 2009
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma
disease Neoplasms Neoplastic Process 43 0.300 1 2009 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.300 1 2009 2009
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 51 4 0.300 1 2009 2009
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
disease Neoplasms Neoplastic Process 43 0.300 1 2009 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 92 1 0.300 1 2009 2009
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis
disease Disease or Syndrome 3 0.300 0
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
group Hemic and Lymphatic Diseases Neoplastic Process 263 23 0.200 0.983 60 2 1996 2018
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 489 44 0.140 1.000 4 1 2007 2014
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.130 1.000 3 2006 2013
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia
disease Disease or Syndrome 9 0.110 < 0.001 1 2008 2008
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.100 0.889 10 1 1997 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.100 1.000 10 1996 2014
CUI: C3277190
Disease: THROMBOCYTHEMIA 2, SOMATIC
THROMBOCYTHEMIA 2, SOMATIC
phenotype Finding 1 1 0.100 2 1 2007 2007