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: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 9 2 0.010 None 1.000 1 2007 2007
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2007 2007
Enterochromaffin-like cell carcinoid
disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2007 2007
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor
disease Neoplasms Neoplastic Process 84 1 0.010 None 1.000 1 2007 2007
Mediastinal (Thymic) Large B-Cell Lymphoma
disease Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 1 0.010 None 1.000 1 2007 2007
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2007 2007
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
disease Disease or Syndrome 138 21 0.010 None 1.000 1 2007 2007
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 2007 2007
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.020 None 1.000 2 2002 2008
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 260 95 0.020 None 1.000 2 2004 2008
CUI: C0010633
Disease: Cystadenoma
Cystadenoma
disease Neoplasms Neoplastic Process 75 1 0.010 None 1.000 1 2008 2008
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 174 187 0.010 None 1.000 1 2008 2008
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2008 2008
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 94 144 0.010 None 1.000 1 2008 2008
CUI: C1510885
Disease: Angiogenic Switch
Angiogenic Switch
disease Neoplastic Process 96 3 0.010 None 1.000 1 2008 2008
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 83 11 0.010 None 1.000 1 2008 2008
Infant T Acute Lymphoblastic Leukemia
disease Neoplastic Process 75 1 0.010 None 1.000 1 2008 2008
CUI: C0018552
Disease: Hamartoma
Hamartoma
disease Neoplasms Neoplastic Process 91 8 0.020 None 1.000 2 2008 2009
Childhood T Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 119 2 0.020 None 1.000 2 2008 2009
CUI: C0004269
Disease: Child attention deficit disorder
Child attention deficit disorder
disease Mental Disorders Disease or Syndrome 26 0.010 None 1.000 1 2009 2009
CUI: C0008354
Disease: Cholera
Cholera
disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2009 2009
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 38 0.010 None 1.000 1 2009 2009
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 123 7 0.010 None 1.000 1 2009 2009
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma
disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 167 16 0.010 None 1.000 1 2009 2009
CUI: C0334299
Disease: Carcinoid tumor no ICD-O subtype
Carcinoid tumor no ICD-O subtype
phenotype Neoplasms Neoplastic Process 122 0.010 None 1.000 1 2009 2009