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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2013 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.040 None 1.000 4 2015 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.040 None 1.000 4 2015 2017
Deficiency of acetyl-CoA acetyltransferase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 30 0.040 None 1.000 4 2001 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.120 None 1.000 2 2013 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.020 None 0.500 2 2013 2019
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29 0.010 None 1.000 1 2017 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2016 2016
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.010 None 1.000 1 2016 2016
Erythrocyte Mean Corpuscular Hemoglobin Test
phenotype Laboratory Procedure 13 0.300 strong 1.000 1 2016 2016
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.110 None 1.000 1 2011 2011
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None 1.000 1 1987 1987
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders
group Nutritional and Metabolic Diseases Disease or Syndrome 95 10 0.300 None 1.000 1 2006 2006
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.010 None 1.000 1 2014 2014
CUI: C0033581
Disease: prostatitis
prostatitis
disease Male Urogenital Diseases Disease or Syndrome 86 1 0.010 None 1.000 1 2019 2019
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Nervous System Diseases Disease or Syndrome 484 110 0.010 None 1.000 1 2019 2019
CUI: C1868112
Disease: Crossed Polydactyly, Type I
Crossed Polydactyly, Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2003 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.300 None 1.000 1 2011 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2011 2011
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2012 2012
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.010 None 1.000 1 2019 2019
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.300 strong 1.000 1 2016 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2011 2011
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018