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: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 64 17 0.010 None 1.000 1 2019 2019
CUI: C0342494
Disease: Adrenocortical hyperplasia
Adrenocortical hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 25 0.010 None < 0.001 1 2009 2009
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 32 2 0.010 None 1.000 1 2019 2019
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 2015 2015
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 1 2015 2015
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2018 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 1 2012 2012
CUI: C0549622
Disease: Sexual Dysfunction
Sexual Dysfunction 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 36 12 0.010 None 1.000 1 2017 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2 2007 2007
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2015 2015
CUI: C0729353
Disease: Subfertility
Subfertility 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 91 3 0.010 None 1.000 1 2006 2006
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		disease Neoplastic Process 51 18 0.010 None 1.000 1 2007 2007
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome 		disease Endocrine System Diseases Disease or Syndrome 120 9 0.010 None 1.000 1 2006 2006
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2014 2014
CUI: C0334409
Disease: Leydig cell tumor, benign
Leydig cell tumor, benign 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 18 0.010 None 1.000 1 2011 2011
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 108 24 0.010 None 1.000 1 1 2015 2015
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 281 46 0.010 None 1.000 1 2009 2009
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 223 12 0.010 None 1.000 1 1 2012 2012
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 45 1 0.010 None 1.000 1 2014 2014
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 9 92 0.010 None 1.000 1 1998 1998
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 77 0.010 None 1.000 1 1 2008 2008
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.010 None 1.000 1 2015 2015
CUI: C0242788
Disease: Breast Neoplasms, Male
Breast Neoplasms, Male 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 0.010 None 1.000 1 2004 2004
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.010 None 1.000 1 2019 2019
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2019 2019