Source: ALL
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: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 20 17 0.800 None 1.000 30 12 1993 2017
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 21 0.800 None 1.000 21 19 1995 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.200 None 0.947 19 9 2000 2019
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 139 20 0.200 None 1.000 13 4 1993 2017
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 14 10 0.400 None 1.000 12 7 1994 2018
CUI: C0860158
Disease: Leydig Cell Hypoplasia
Leydig Cell Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 6 0.400 None 1.000 11 4 1995 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.090 None 1.000 9 1 1996 2013
CUI: C4521591
Disease: Peripheral precocious puberty
Peripheral precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 5 0.060 None 1.000 6 1995 2017
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.350 None 1.000 6 1995 2009
CUI: C0023601
Disease: Leydig Cell Tumor
Leydig Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 42 3 0.530 None 1.000 4 1 1999 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 0.750 4 2006 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.040 None 1.000 4 2000 2017
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.040 None 1.000 4 2000 2019
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 10 0.320 None 1.000 4 1995 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.340 None 0.750 4 2006 2015
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
Histiocytosis, Langerhans-Cell 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 104 12 0.030 None 1.000 3 5 1995 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.030 None 1.000 3 2000 2010
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.030 None 1.000 3 2000 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1995 2005
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 3 2017 2019
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.320 None 1.000 3 2000 2012
CUI: C1328577
Disease: Empty follicle syndrome
Empty follicle syndrome 		disease Disease or Syndrome 14 1 0.030 None 1.000 3 2011 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 64 24 0.030 None 1.000 3 2 2007 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.030 None 1.000 3 2003 2010