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: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
disease Infections; Respiratory Tract Diseases Disease or Syndrome 358 171 0.090 None 1.000 9 2007 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.070 None 1.000 7 2009 2019
CUI: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary
disease Infections Disease or Syndrome 58 21 0.050 None 1.000 5 2013 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.030 None 1.000 3 1999 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2013 2018
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.020 None 1.000 2 2018 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2018 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2013 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2013 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2004 2004
CUI: C0730307
Disease: Cancer-Associated Retinopathy
Cancer-Associated Retinopathy
disease Neoplasms; Eye Diseases Disease or Syndrome 6 0.010 None 1.000 1 2001 2001
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.010 None 1.000 1 2002 2002
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2019 2019
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight
phenotype Sign or Symptom 42 2 0.010 None 1.000 1 2017 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2016 2016
CUI: C0406810
Disease: Carney Complex
Carney Complex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.010 None 1.000 1 2001 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2013 2013
CUI: C0949664
Disease: Tauopathies
Tauopathies
group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2011 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2004 2004
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2002 2002
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 168 88 0.010 None 1.000 1 2017 2017
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2009 2009
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
disease Nutritional and Metabolic Diseases Disease or Syndrome 19 9 0.010 None 1.000 1 2005 2005
CUI: C1739405
Disease: CML progression
CML progression
disease Neoplastic Process 47 3 0.010 None 1.000 1 2019 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2017 2017