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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.100 None 0.933 15 2001 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 0.933 15 2001 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.070 None 1.000 7 1992 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.060 None 1.000 6 2008 2018
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
disease Male Urogenital Diseases Disease or Syndrome 770 91 0.040 None 1.000 4 2001 2009
CUI: C0010314
Disease: Cri-du-Chat Syndrome
Cri-du-Chat Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 0.030 None 1.000 3 2013 2020
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.030 None 1.000 3 2010 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2008 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.020 None 1.000 2 2017 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.020 None 1.000 2 2017 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.020 None 0.500 2 1999 2006
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2008 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2003 2003
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2013 2013
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.010 None 1.000 1 2009 2009
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 2014 2014
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma
disease Skin and Connective Tissue Diseases Disease or Syndrome 135 1 0.010 None 1.000 1 2017 2017
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 9 0.010 None 1.000 1 2018 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2015 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2002 2002
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2009 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 1982 1982
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.010 None 1.000 1 2020 2020
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.010 None 1.000 1 2008 2008
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2017 2017