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: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 69 9 0.580 1.000 8 1 2007 2012
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.400 4 3 1993 2013
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 19 1 0.300 0
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 4 2008 2012
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 4 2008 2012
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 strong 4 2008 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 1 2017 2017
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
phenotype Finding 12 0.100 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 40 0.100 0
CUI: C0855329
Disease: Electrocardiographic changes
Electrocardiographic changes
phenotype Finding 103 5 0.100 0
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased
phenotype Finding 71 2 0.100 0
CUI: C1385263
Disease: Deformity of face
Deformity of face
phenotype Anatomical Abnormality 69 0.100 0
CUI: C1744601
Disease: Abnormal heart beat
Abnormal heart beat
phenotype Sign or Symptom 99 0.100 0
CUI: C1832603
Disease: ECG abnormality
ECG abnormality
phenotype Finding 99 0.100 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 101 0.100 0
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease Congenital Abnormality 273 7 0.100 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
disease Disease or Syndrome 33 0.100 0
CUI: C4072832
Disease: Distortion of face
Distortion of face
phenotype Finding 69 0.100 0
CUI: C0744641
Disease: Intermittent migraine headaches
Intermittent migraine headaches
disease Disease or Syndrome 94 0.100 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
phenotype Finding 23 0.100 0
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia
disease Disease or Syndrome 7 0.100 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 131 29 0.100 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 329 33 0.100 0
CUI: C0018564
Disease: Hand deformities
Hand deformities
group Musculoskeletal Diseases Anatomical Abnormality 46 0.100 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 164 18 0.100 0