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: C0272170
Disease: Shwachman syndrome
Shwachman syndrome
disease Digestive System Diseases; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 13 0.800 0.936 57 12 1993 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.420 1.000 2 2009 2012
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.410 < 0.001 1 2006 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 moderate 0
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 33 0.320 < 0.001 2 2007 2007
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2003 2004
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 2 2003 2004
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 1 2017 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.300 strong 0
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 14 0.300 0
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic
disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.300 0
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 328 21 0.110 1.000 1 2008 2008
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency
disease Digestive System Diseases Disease or Syndrome 35 7 0.110 1.000 1 2007 2007
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 12 2 1999 2014
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
phenotype Finding 2 8 0.100 4 1 2003 2007
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 246 3 0.100 1 2 2015 2015
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 1 2 2015 2015
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 1 2 2015 2015
CUI: C0014306
Disease: Enophthalmos
Enophthalmos
disease Eye Diseases Disease or Syndrome 103 11 0.100 1 2 2015 2015
CUI: C0457756
Disease: Tooth absent
Tooth absent
phenotype Finding 10 2 0.100 1 2 2015 2015
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 77 5 0.100 0
CUI: C1442837
Disease: Myocardial necrosis
Myocardial necrosis
disease Disease or Syndrome 5 2 0.100 0
CUI: C0438237
Disease: Liver enzymes abnormal
Liver enzymes abnormal
phenotype Finding 117 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0