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: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.320 strong 0.500 2 2015 2019
CUI: C4748253
Disease: SPERMATOGENIC FAILURE 32
SPERMATOGENIC FAILURE 32
disease Disease or Syndrome 1 2 0.300 None 1.000 2 2 2010 2017
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.110 None 1.000 1 2 2015 2015
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 168 88 0.110 None 1.000 1 2017 2017
CUI: C4540141
Disease: OVARIAN DYSGENESIS 5
OVARIAN DYSGENESIS 5
disease Disease or Syndrome 1 2 0.100 None 1.000 1 2 2015 2015
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0266399
Disease: Infantile uterus
Infantile uterus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 43 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia
disease Male Urogenital Diseases Disease or Syndrome 74 9 0.100 None 0
CUI: C0021359
Disease: Infertility
Infertility
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2018 2018
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive
disease Male Urogenital Diseases Disease or Syndrome 91 22 0.010 None 1.000 1 2010 2010
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2018 2018
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism
disease Endocrine System Diseases Disease or Syndrome 50 1 0.010 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 0.010 None 1.000 1 2015 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2018 2018