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.
PREMATURE OVARIAN FAILURE 7 (disorder)
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 1 9 0.700 None 1.000 5 9 2000 2016
CUI: C3151406
Disease: SPERMATOGENIC FAILURE 8
SPERMATOGENIC FAILURE 8
disease Disease or Syndrome 1 6 0.700 None 1.000 3 6 2010 2015
CUI: C3805515
Disease: Microorchidism
Microorchidism
disease Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
ADRENAL INSUFFICIENCY, NR5A1-RELATED
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility
disease Male Urogenital Diseases Disease or Syndrome 2 3 0.100 None 1.000 7 2 2011 2017
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 0.030 None 1.000 3 2007 2013
CUI: C2118097
Disease: Agonadism
Agonadism
disease Disease or Syndrome 2 0.030 None 1.000 3 2007 2013
CUI: C4025253
Disease: Streaky metaphyseal sclerosis
Streaky metaphyseal sclerosis
phenotype Finding 2 0.100 None 0
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 0.700 None 1.000 17 20 1999 2017
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 0.040 None 1.000 4 2007 2017
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
disease Congenital Abnormality 3 2 0.400 None 1.000 4 2 2016 2017
CUI: C3279550
Disease: Cryptozoospermia
Cryptozoospermia
phenotype Male Urogenital Diseases Finding 3 0.100 None 0
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 4 0.010 None 1.000 1 2011 2011
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation
disease Anatomical Abnormality 4 0.100 None 0
Large cell calcifying Sertoli cell tumor
disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2013 2013
Abnormality of male internal genitalia
disease Anatomical Abnormality 5 0.100 None 0
Ovotesticular Differences of Sex Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 2 0.030 None 1.000 3 2 2017 2017
CUI: C0018050
Disease: Gonadal Disorders
Gonadal Disorders
group Endocrine System Diseases Disease or Syndrome 6 0.020 None 1.000 2 2004 2011
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX 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 6 1 0.020 None 1.000 2 1 2017 2019
Hypergonadotropic Ovarian Failure, X-Linked
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2009 2009
Ovotesticular Disorders of Sex Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 7 3 0.340 None 1.000 4 2 2017 2019
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 7 2 0.300 None 1.000 1 2009 2009
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 15 0.010 None 1.000 1 2013 2013
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
Pure Gonadal Dysgenesis, 46, XX
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 1 0.500 None 1.000 1 2009 2009
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 2020 2020