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.
3 beta-Hydroxysteroid dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 9 25 0.780 None 1.000 23 22 1993 2015
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.500 None 1.000 11 2 1994 2016
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 0.420 None 1.000 2 2004 2015
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.400 None 1.000 1 2015 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.360 None 1.000 6 1 1997 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.340 None 1.000 5 2012 2019
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.310 None 1.000 1 2007 2007
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.300 None 1.000 1 2015 2015
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.300 None 1.000 1 2015 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.300 None 1.000 1 2009 2009
CUI: C1563731
Disease: Inguinal Cryptorchidism
Inguinal Cryptorchidism
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Finding 8 0.300 None 1.000 1 2015 2015
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 17 5 0.300 None 1.000 1 2015 2015
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2012 2012
CUI: C1456784
Disease: Paranoia
Paranoia
disease Mental Disorders Mental or Behavioral Dysfunction 35 5 0.300 None 1.000 1 2012 2012
CUI: C2931782
Disease: Adrenal hyperplasia 2
Adrenal hyperplasia 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2005 2005
CUI: C0020514
Disease: Hyperprolactinemia
Hyperprolactinemia
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 48 10 0.200 None 1.000 1 1994 1994
CUI: C0008043
Disease: Chiari-Frommel Syndrome
Chiari-Frommel Syndrome
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 9 0.200 None 1.000 1 1994 1994
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche
disease Endocrine System Diseases Disease or Syndrome 30 11 0.140 None 1.000 4 1 1994 2005
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 0.130 None 1.000 3 2005 2016
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria
disease Disease or Syndrome 17 0.100 None 0
CUI: C0702166
Disease: Acne
Acne
disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C0426320
Disease: Absent scrotum
Absent scrotum
disease Congenital Abnormality 2 0.100 None 0