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: C1960539
Disease: Aromatase deficiency
Aromatase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 12 0.790 1.000 18 12 1991 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 525 181 0.600 0.938 21 2 1994 2018
CUI: C0014175
Disease: Endometriosis
Endometriosis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 748 156 0.600 0.964 37 1 2002 2017
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 0.580 1.000 8 1998 2015
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.480 1.000 9 2001 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.400 1.000 10 4 2001 2014
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 67 0.400 1 1997 1997
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 568 41 0.400 1 2002 2002
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 1.000 43 1997 2017
CUI: C0021361
Disease: Female infertility
Female infertility
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 33 1 0.400 1 2004 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 0.946 115 13 1994 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.939 118 13 1994 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.350 1.000 6 2003 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.340 6 2006 2009
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 228 2 0.330 0.667 5 2009 2014
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency
disease Disease or Syndrome 35 1 0.330 1.000 3 1 2007 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 1711 67 0.320 1.000 3 1 2008 2014
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
phenotype Behavior and Behavior Mechanisms Sign or Symptom 146 62 0.310 1.000 1 1 2006 2006
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 81 0.310 1.000 2 2004 2010
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome
disease Disease or Syndrome 40 4 0.310 1.000 1 2011 2011
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 204 8 0.310 1.000 2 1997 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.310 1.000 1 2011 2011
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 672 66 0.300 1 2011 2011
CUI: C1563718
Disease: Genital Infantilism
Genital Infantilism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.300 1 1994 1994
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 28 0.300 1 2004 2004