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: C4225402
Disease: PREMATURE OVARIAN FAILURE 10
PREMATURE OVARIAN FAILURE 10
disease Disease or Syndrome 2 3 0.600 None 1.000 1 3 2015 2015
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.340 strong 1.000 5 1 2012 2019
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.110 None 1.000 2 1 2017 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause
phenotype Finding 129 209 0.100 None 1.000 8 4 2009 2019
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma
disease Neoplastic Process 41 103 0.100 None 1.000 2 1 2018 2019
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
group Neoplasms Neoplastic Process 569 154 0.100 None 1.000 2 1 2018 2019
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
disease Finding 149 527 0.100 None 1.000 1 1 2010 2010
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
CUI: C0025323
Disease: Menorrhagia
Menorrhagia
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 34 6 0.100 None 1.000 1 1 2019 2019
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2010 2010
CUI: C4048548
Disease: Anti-Mullerian Hormone Measurement
Anti-Mullerian Hormone Measurement
phenotype Laboratory Procedure 7 9 0.100 None 1.000 1 1 2019 2019
Elevated circulating follicle stimulating hormone level
phenotype Finding 26 0.100 None 0
Elevated circulating luteinizing hormone level
phenotype Finding 23 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
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 613 283 0.100 None 0
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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019