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: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 7 2 0.300 None 1.000 1 2009 2009
Hypergonadotropic Ovarian Failure, X-Linked
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
Gonadotropin-Resistant Ovary Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 9 4 0.300 None 1.000 1 2009 2009
CUI: C0432475
Disease: XX males
XX males
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.300 None 1.000 1 2017 2017
CUI: C0917731
Disease: Male sterility
Male sterility
phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2010 2010
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
phenotype Male Urogenital Diseases Sign or Symptom 70 2 0.300 None 1.000 1 2010 2010
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.200 None 1.000 16 2 2009 2020
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.200 None 0.917 12 5 2009 2017
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 0
Isolated lutropin deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 9 6 0.200 None 0
Necrosis of pituitary gland (postpartum)
phenotype Pathologic Function 8 0.200 None 0
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.200 None 0
Idiopathic growth hormone deficiency
disease Disease or Syndrome 10 0.200 None 0
CUI: C0221405
Disease: Pituitary cachexia
Pituitary cachexia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 8 0.200 None 0
Isolated deficiency of pituitary hormone
disease Disease or Syndrome 8 0.200 None 0
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 86 30 0.200 None 0
CUI: C2874190
Disease: Pituitary short stature
Pituitary short stature
disease Disease or Syndrome 8 0.200 None 0
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.200 None 0
CUI: C0242342
Disease: Sheehan Syndrome
Sheehan Syndrome
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 16 2 0.200 None 0
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 73 23 0.200 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.160 None 1.000 6 1 2006 2015
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.160 None 1.000 6 2 2005 2017
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.150 None 1.000 5 2008 2016
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.140 None 1.000 4 2007 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.140 None 1.000 4 1998 2010