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.
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
disease Disease or Syndrome 1 3 0.600 strong 1.000 4 3 1997 2019
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.510 strong 1.000 3 1997 2018
Congenital dyserythropoietic anemia, type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 12 0.500 None 1.000 1 2013 2013
Congenital dyserythropoietic anemia, type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 14 0.300 None 0
Congenital dyserythropoietic anemia, type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement
phenotype Laboratory Procedure 15 0.100 None 0
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production
disease Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.100 None 0
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis
phenotype Finding 14 0.100 None 0
CUI: C0014800
Disease: Erythroid hyperplasia
Erythroid hyperplasia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 22 3 0.100 None 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis
phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 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: C0221278
Disease: Anisocytosis
Anisocytosis
phenotype Finding 16 1 0.100 None 0