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: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.130 None 1.000 3 2016 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2015 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2015 2019
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2003 2003
Adenoid cystic carcinoma of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 47 0.010 None 1.000 1 2017 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2016 2016
CUI: C0747102
Disease: Ovarian failure
Ovarian failure
disease Endocrine System Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2015 2015
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.010 None 1.000 1 2015 2015
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 322 2 0.010 None 1.000 1 2019 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2016 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019
CUI: C1384582
Disease: Primary testicular failure
Primary testicular failure
disease Endocrine System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2015 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2018 2018
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.010 None 1.000 1 2003 2003
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2017 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.010 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2003 2003
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2015 2015
Elevated circulating follicle stimulating hormone level
phenotype Finding 26 0.100 None 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 44 0.100 None 0
Elevated circulating luteinizing hormone level
phenotype Finding 23 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0