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.
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 82 66 1.000 strong 0.981 54 21 1997 2018
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.700 None 0.971 35 6 1999 2018
Hypogonadism, Isolated Hypogonadotropic
disease Endocrine System Diseases Disease or Syndrome 42 8 0.560 None 1.000 7 3 2001 2016
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 305 24 0.390 None 1.000 10 1999 2017
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.300 None 1.000 1 2005 2005
CUI: C0750887
Disease: Adrenal Cancer
Adrenal Cancer
disease Neoplasms; Endocrine System Diseases Neoplastic Process 20 0.300 None 1.000 1 2009 2009
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.300 None 1.000 1 2009 2009
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 0.290 None 1.000 10 2000 2015
Isolated lutropin deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 9 6 0.210 None 1.000 2 1 2001 2005
CUI: C2874190
Disease: Pituitary short stature
Pituitary short stature
disease Disease or Syndrome 8 0.200 None 1.000 1 2005 2005
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.200 None 1.000 1 2005 2005
Necrosis of pituitary gland (postpartum)
phenotype Pathologic Function 8 0.200 None 1.000 1 2005 2005
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 41 12 0.200 None 1.000 1 2005 2005
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: 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: 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: 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
Isolated deficiency of pituitary hormone
disease Disease or Syndrome 8 0.200 None 1.000 1 2005 2005
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.110 None 1.000 1 2018 2018
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: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.110 None 1.000 1 2018 2018
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.110 None 1.000 1 2019 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 150 18 0.100 None 0.963 27 5 1999 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 16 1994 2019