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: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis
disease Endocrine System Diseases Disease or Syndrome 20 17 0.800 None 1.000 30 12 1993 2017
CUI: C0266432
Disease: Leydig cell agenesis
Leydig cell agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 21 0.800 None 1.000 21 19 1995 2018
CUI: C0023601
Disease: Leydig Cell Tumor
Leydig Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 42 3 0.530 None 1.000 4 1 1999 2012
CUI: C2673497
Disease: Leydig Cell Hypoplasia, Type II
Leydig Cell Hypoplasia, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 2 0.420 None 1.000 2 2 1998 2013
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis
disease Endocrine System Diseases Disease or Syndrome 14 10 0.400 None 1.000 12 7 1994 2018
CUI: C0860158
Disease: Leydig Cell Hypoplasia
Leydig Cell Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 6 0.400 None 1.000 11 4 1995 2018
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 16 19 0.400 None 1.000 1 1 2012 2012
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.400 None 1.000 1 1 2010 2010
Luteinizing Hormone Resistance, Female
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 3 0.400 None 0 3
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.350 None 1.000 6 1995 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.340 None 0.750 4 2006 2015
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 10 0.320 None 1.000 4 1995 2018
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.320 None 1.000 3 2000 2012
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 20 0.300 None 1.000 2 1995 2009
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 0.300 None 1.000 1 2012 2012
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.300 None 1.000 1 2012 2012
CUI: C2930618
Disease: Intersex Conditions
Intersex Conditions
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 9 0.300 None 1.000 1 2012 2012
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 34 0.300 None 1.000 1 2012 2012
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: C0917731
Disease: Male sterility
Male sterility
phenotype Male Urogenital Diseases Finding 48 0.300 None 1.000 1 2010 2010
46,XY Disorder of Sex Development Due To LH Defects
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.300 None 0
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 0.200 None 0.947 19 9 2000 2019
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 139 20 0.200 None 1.000 13 4 1993 2017
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.200 None 1.000 1 2004 2004
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 80 6 0.120 None 1.000 2 2017 2018