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: C0221033
Disease: Trisomy X syndrome
Trisomy X syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0221405
Disease: Pituitary cachexia
Pituitary cachexia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 1.000 1 2005 2005
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.110 None 1.000 1 2019 2019
CUI: C0242342
Disease: Sheehan Syndrome
Sheehan Syndrome
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 16 2 0.200 None 1.000 1 2005 2005
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.200 None 1.000 1 2005 2005
CUI: C0269102
Disease: Endometrioma
Endometrioma
disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.010 None 1.000 1 2000 2000
CUI: C0271577
Disease: Isolated gonadotropin deficiency
Isolated gonadotropin deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 1.000 1 2005 2005
Idiopathic growth hormone deficiency
disease Disease or Syndrome 10 0.200 None 1.000 1 2005 2005
Follicle stimulating hormone deficiency
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2006 2006
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 2017 2017
CUI: C0349579
Disease: Atypical Endometrial Hyperplasia
Atypical Endometrial Hyperplasia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 32 0.010 None 1.000 1 2002 2002
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 2019 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2019 2019
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2008 2008
CUI: C0750887
Disease: Adrenal Cancer
Adrenal Cancer
disease Neoplasms; Endocrine System Diseases Neoplastic Process 20 0.300 None 1.000 1 2009 2009
CUI: C0878773
Disease: Overactive Bladder
Overactive Bladder
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 65 3 0.010 None 1.000 1 2018 2018
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.300 None 1.000 1 2005 2005
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.010 None 1.000 1 2019 2019
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
disease Endocrine System Diseases Disease or Syndrome 82 25 0.010 None 1.000 1 2011 2011
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2008 2008
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.110 None 1.000 1 2018 2018
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 12 30 0.100 None 1.000 1 2 2012 2012
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 45 0.100 None 1.000 1 2 2012 2012
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2015 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 1998 1998