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: C0272405
Disease: Functional asplenia
Functional asplenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1976 1976
CUI: C0156847
Disease: Anaemia, postpartum
Anaemia, postpartum 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0206369
Disease: Splenosis
Splenosis 		disease Hemic and Lymphatic Diseases; Wounds and Injuries Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1328551
Disease: Transfusion associated graft versus host disease
Transfusion associated graft versus host disease 		disease Disease or Syndrome 3 0.010 None < 0.001 1 2000 2000
CUI: C1504533
Disease: Post transplant erythrocytosis
Post transplant erythrocytosis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2008 2008
CUI: C2359904
Disease: Aggregated erythrocytes
Aggregated erythrocytes 		phenotype Anatomical Abnormality 3 0.010 None 1.000 1 2017 2017
CUI: C0345319
Disease: Cyst of hydatid of Morgagni
Cyst of hydatid of Morgagni 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Congenital Abnormality 4 0.010 None 1.000 1 1982 1982
CUI: C0020058
Disease: Howell-Jolly Bodies
Howell-Jolly Bodies 		disease Acquired Abnormality 5 0.010 None 1.000 1 2007 2007
CUI: C0869532
Disease: Beta thalassemia minor
Beta thalassemia minor 		disease Disease or Syndrome 5 1 0.010 None 1.000 1 1988 1988
CUI: C3666003
Disease: Transfusion dependent anaemia
Transfusion dependent anaemia 		disease Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 2 0.020 None 1.000 2 1989 2018
CUI: C0019034
Disease: Hemoglobin SC Disease
Hemoglobin SC Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.010 None 1.000 1 1987 1987
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 1994 1994
CUI: C0687751
Disease: Acanthocytosis
Acanthocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.030 None 1.000 3 1988 2014
CUI: C0015503
Disease: Factor VII Deficiency
Factor VII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 73 0.010 None 1.000 1 1991 1991
CUI: C0796466
Disease: Refractory cytopenia with multilineage dysplasia
Refractory cytopenia with multilineage dysplasia 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None 1.000 1 2019 2019
CUI: C0265808
Disease: Cyanotic congenital heart disease
Cyanotic congenital heart disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 14 0.010 None 1.000 1 2001 2001
CUI: C0860218
Disease: ABO incompatibility
ABO incompatibility 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 2 0.010 None 1.000 1 2019 2019
CUI: C1856659
Disease: Polysplenia
Polysplenia 		disease Congenital Abnormality 15 0.020 None 1.000 2 2019 2019
CUI: C0085578
Disease: Thalassemia Minor
Thalassemia Minor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2017 2017
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.010 None 1.000 1 2015 2015
CUI: C0013502
Disease: Echinococcosis
Echinococcosis 		disease Infections Disease or Syndrome 21 1 0.010 None 1.000 1 1982 1982
CUI: C0858321
Disease: Plasmodium vivax infection
Plasmodium vivax infection 		disease Infections Disease or Syndrome 21 1 0.010 None 1.000 1 2018 2018
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 0.010 None < 0.001 1 2013 2013
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 24 2 0.010 None 1.000 1 2019 2019