Source: ALL
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: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.200 None 1.000 1 2013 2013
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 26 0.200 None 1.000 1 2013 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2012 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2012 2012
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.010 None 1.000 1 2012 2012
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2011 2011
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2011 2011
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.010 None 1.000 1 2012 2012
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2011 2011
CUI: C0031090
Disease: Periodontal Diseases
Periodontal Diseases
group Stomatognathic Diseases Disease or Syndrome 326 22 0.010 None 1.000 1 2018 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2012 2012