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 3 0.400 4 3 2004 2015
CUI: C3277190
Disease: THROMBOCYTHEMIA 2, SOMATIC
THROMBOCYTHEMIA 2, SOMATIC
phenotype Finding 1 1 0.100 2 1 2007 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 97 0.020 2 2005 2008
CUI: C3714514
Disease: Infection
Infection
group Bacterial Infections and Mycoses Pathologic Function 491 0.010 1 2004 2004
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: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma
disease Neoplasms Neoplastic Process 51 4 0.300 1 2009 2009
CUI: C0019080
Disease: Hemorrhage
Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 36 0.010 1 2008 2008
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 92 1 0.300 1 2009 2009
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma
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: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
phenotype Finding 9 1 0.100 0
CUI: C0392386
Disease: Decreased platelet count
Decreased platelet count
phenotype Finding 151 0.100 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Finding 84 2 0.100 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.100 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
phenotype Sign or Symptom 137 0.100 0
CUI: C0040264
Disease: Tinnitus
Tinnitus
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 22 0.100 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 89 218 0.100 0
CUI: C0042571
Disease: Vertigo
Vertigo
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 55 9 0.100 0
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 77 3 0.100 0
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.100 0
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax
phenotype Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 11 0.100 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
phenotype Finding 33 3 0.100 0