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: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 130 0.300 1 2014 2014
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 474 15 0.030 1.000 3 1990 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 606 30 0.010 1.000 1 1990 1990
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension
disease Disease or Syndrome 95 313 0.010 1.000 1 1996 1996
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 57 3 0.010 1.000 1 1990 1990
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.010 1.000 1 2004 2004
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.010 1.000 1 2012 2012
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.010 1.000 1 2012 2012
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 266 13 0.010 1.000 1 1990 1990
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia
disease Neoplastic Process 232 7 0.010 1.000 1 1990 1990
CUI: C0041107
Disease: Trisomy
Trisomy
group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 208 1 0.010 1.000 1 1990 1990
CUI: C0040100
Disease: Thymoma
Thymoma
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 204 17 0.010 1.000 1 2015 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.010 1.000 1 1996 1996
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 474 7 0.010 1.000 1 1990 1990
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 225 20 0.010 1.000 1 2001 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.010 1.000 1 2004 2004
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.010 1.000 1 1996 1996
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.010 1.000 1 2012 2012
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 395 79 0.010 1.000 1 2012 2012
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 463 69 0.010 1.000 1 2012 2012
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 296 20 0.010 1.000 1 1996 1996