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: C4024645
Disease: Incomplete male pseudohermaphroditism
Incomplete male pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 1 0.010 None 1.000 1 1997 1997
CUI: C3714042
Disease: 46,XY Disorder of Sex Development Due To LH Defects
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: 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: 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: 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: C2674612
Disease: Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 3 1 0.100 None 0 1
CUI: C3668935
Disease: Luteinizing Hormone Resistance, Female
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: C4016252
Disease: LEYDIG HYPOPLASIA, TYPE I
LEYDIG HYPOPLASIA, TYPE I 		disease Finding 3 1 0.100 None 0 1
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		phenotype Finding 3 1 0.100 None 0 1
CUI: C4521591
Disease: Peripheral precocious puberty
Peripheral precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 5 0.060 None 1.000 6 1995 2017
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males 		phenotype Endocrine System Diseases Finding 5 3 0.100 None 0 2
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: C0023600
Disease: Leydig cell hyperplasia
Leydig cell hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2 2001 2001
CUI: C0039747
Disease: Thecoma
Thecoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2000 2000
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 9 92 0.010 None 1.000 1 1998 1998
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: C4012790
Disease: Ataxia-Telangiectasisa-Like Disorder 1
Ataxia-Telangiectasisa-Like Disorder 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 11 15 0.010 None 1.000 1 2014 2014
CUI: C4721567
Disease: Theca cell tumor of ovary
Theca cell tumor of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 11 0.010 None 1.000 1 2000 2000
CUI: C1858391
Disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER
ATAXIA-TELANGIECTASIA-LIKE DISORDER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 12 13 0.010 None 1.000 1 2014 2014
CUI: C2062372
Disease: Adrenal hyperplasia, bilateral
Adrenal hyperplasia, bilateral 		disease Congenital Abnormality 12 0.010 None 1.000 1 2020 2020
CUI: C0269011
Disease: Increased size of penis
Increased size of penis 		phenotype Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 14 10 0.400 None 1.000 12 7 1994 2018
CUI: C1328577
Disease: Empty follicle syndrome
Empty follicle syndrome 		disease Disease or Syndrome 14 1 0.030 None 1.000 3 2011 2019
CUI: C0242788
Disease: Breast Neoplasms, Male
Breast Neoplasms, Male 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 0.010 None 1.000 1 2004 2004
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