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: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.100 None 0
CUI: C0553720
Disease: Spherocytosis
Spherocytosis
phenotype Finding 5 0.100 None 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 11 0.100 None 0
CUI: C1832168
Disease: BLOOD GROUP--FROESE
BLOOD GROUP--FROESE
phenotype Finding 1 2 0.400 moderate 0 2
Increased red cell osmotic fragility
phenotype Finding 9 0.100 None 0
Extramedullary Hematopoiesis Function
phenotype Organ or Tissue Function 16 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation
phenotype Finding 121 11 0.100 None 0
CUI: C1862190
Disease: BLOOD GROUP--WRIGHT ANTIGEN
BLOOD GROUP--WRIGHT ANTIGEN
phenotype Amino Acid, Peptide, or Protein; Immunologic Factor 1 2 0.400 moderate 0 2
CUI: C1862191
Disease: BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WALDNER TYPE
phenotype Finding 1 2 0.400 moderate 0 2
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 0
CUI: C0016663
Disease: Pathological fracture
Pathological fracture
phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0
CUI: C0020621
Disease: Hypokalemia
Hypokalemia
phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia
disease Disease or Syndrome 60 14 0.100 None 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis
phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0030443
Disease: Familial Periodic Paralysis
Familial Periodic Paralysis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 10 0.100 None 0
CUI: C0035579
Disease: Rickets
Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0085593
Disease: Chills
Chills
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 34 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0