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: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2
disease Disease or Syndrome 1 4 0.600 strong 1.000 5 4 2004 2015
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1
disease Disease or Syndrome 5 4 0.100 None 1.000 4 1 2008 2010
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2005 2017
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.120 None 1.000 2 2000 2020
CUI: C0009812
Disease: Constitutional Symptom
Constitutional Symptom
phenotype Sign or Symptom 30 1 0.010 None 1.000 1 2011 2011
Myelofibrosis due to another disorder
disease Disease or Syndrome 23 6 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1838608
Disease: Radial aplasia
Radial aplasia
disease Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.010 None 1.000 1 2017 2017
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes
disease Disease or Syndrome 41 0.010 None 1.000 1 2018 2018
Post essential thrombocythaemia myelofibrosis
disease Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2018 2018
CUI: C4552543
Disease: TAFRO syndrome
TAFRO syndrome
disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2015 2015
Extramedullary Hematopoiesis Function
phenotype Organ or Tissue Function 16 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
phenotype Finding 39 3 0.100 None 0
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis
phenotype Finding 14 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
phenotype Finding 9 1 0.100 None 0
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification
group Congenital Abnormality 23 1 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
phenotype Finding 10 1 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0