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: 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 0.610 strong 1.000 2 2010 2014
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 limited 1 2013 2013
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 limited 1 2013 2013
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 6 0.760 1.000 11 6 2008 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.560 1.000 8 1 2010 2016
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 107 36 0.360 0.833 7 1 2013 2017
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia
disease Hemic and Lymphatic Diseases Neoplastic Process 17 4 0.060 1.000 6 2013 2017
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome
disease Bacterial Infections and Mycoses; Pathological Conditions, Signs and Symptoms Disease or Syndrome 43 0.050 1.000 5 1996 2015
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.540 1.000 5 2 2013 2015
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 35 6 0.650 1.000 5 3 2013 2016
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 120 37 0.530 1.000 4 1 2013 2017
CUI: C3714602
Disease: Staphylococcal toxic shock syndrome
Staphylococcal toxic shock syndrome
disease Disease or Syndrome 23 0.040 1.000 4 1996 2015
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 41 0.020 1.000 2 2013 2014
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
phenotype Finding 5 9 0.300 2 1 2013 2013
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 2 2010 2014
CUI: C0026499
Disease: Monosomy
Monosomy
group Pathological Conditions, Signs and Symptoms Congenital Abnormality 146 2 0.020 1.000 2 2010 2013
CUI: C0241210
Disease: Speech Delay
Speech Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 212 0.310 < 0.001 2 2011 2014
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
disease Disease or Syndrome 1 7 0.400 2 7 2014 2015
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 2 2010 2014
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 453 75 0.020 1.000 2 1999 2000
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 483 173 0.020 1.000 2 1999 2000
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 0.400 2 2010 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 2 2 2015 2018
Myelodysplastic syndrome, no ICD-O subtype
disease Neoplastic Process 7 0.010 1.000 1 2013 2013