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: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms
group Neoplasms Neoplastic Process 106 11 0.010 1 2008 2008
CUI: C1333119
Disease: Colorectal Villous Adenoma
Colorectal Villous Adenoma
disease Neoplastic Process 2 0.010 1.000 1 2012 2012
CUI: C0023827
Disease: liposarcoma
liposarcoma
disease Neoplasms Neoplastic Process 128 2 0.010 1.000 1 2016 2016
CUI: C0024530
Disease: Malaria
Malaria
disease Parasitic Diseases Disease or Syndrome 468 107 0.010 1 2009 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.010 1.000 1 1 2010 2010
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.010 1.000 1 2014 2014
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 5 0.010 1.000 1 2011 2011
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 420 21 0.010 1.000 1 2007 2007
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease Cardiovascular Diseases Disease or Syndrome 63 4 0.010 1.000 1 1991 1991
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 141 1 0.010 1.000 1 2002 2002
Pituitary-dependent Cushing's disease
disease Endocrine System Diseases; Nervous System Diseases Disease or Syndrome 55 7 0.010 1.000 1 2011 2011
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Neoplasms Disease or Syndrome 48 8 0.010 1.000 1 2007 2007
CUI: C1334274
Disease: Invasive Carcinoma
Invasive Carcinoma
phenotype Neoplastic Process 153 1 0.010 1.000 1 2015 2015
CUI: C1332243
Disease: Adenocarcinoma of ampulla of Vater
Adenocarcinoma of ampulla of Vater
disease Neoplastic Process 4 0.010 1.000 1 2017 2017
CUI: C0021294
Disease: Infant, Premature
Infant, Premature
phenotype Finding 277 21 0.010 1.000 1 2013 2013
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.010 1.000 1 2014 2014
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 152 16 0.010 1.000 1 2000 2000
CUI: C0266153
Disease: Ectopic gastric tissue
Ectopic gastric tissue
disease Congenital Abnormality 3 0.010 1.000 1 2015 2015
CUI: C0265593
Disease: Brachymetacarpia
Brachymetacarpia
disease Congenital Abnormality 1 0.010 1.000 1 2007 2007
CUI: C3887650
Disease: Adult Rickets
Adult Rickets
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 21 0.010 1.000 1 2006 2006
CUI: C0020507
Disease: Hyperplasia
Hyperplasia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 122 0.010 1 2003 2003
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy
disease Congenital Abnormality; Disease or Syndrome 1 0.010 1.000 1 1998 1998
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 39 0.010 1.000 1 2005 2005
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.010 1.000 1 2016 2016
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma
disease Neoplastic Process 93 1 0.010 1.000 1 2018 2018