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: C0030554
Disease: Paresthesia
Paresthesia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 47 2 0.100 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
phenotype Finding 33 3 0.100 0
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis
phenotype Pathologic Function 10 0.100 0
CUI: C0162119
Disease: Hemoglobin low
Hemoglobin low
phenotype Finding 176 1 0.100 0
CUI: C1858312
Disease: Megakaryocytopenia
Megakaryocytopenia
phenotype Finding 2 0.100 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort
phenotype Sign or Symptom 137 0.100 0
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: 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: C0085669
Disease: Acute leukemia
Acute leukemia
disease Neoplastic Process 491 26 0.100 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 136 5 0.100 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 181 5 0.100 0
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
phenotype Musculoskeletal Diseases Finding 407 11 0.100 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.100 0
CUI: C0038990
Disease: Sweating
Sweating
phenotype Finding 96 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: C0521525
Disease: Short neck
Short neck
phenotype Finding 203 1 0.100 0
CUI: C0687713
Disease: Gastrointestinal pain
Gastrointestinal pain
phenotype Sign or Symptom 139 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0