SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
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: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 27 0.700 strong 1.000 31 27 1990 2017
CUI: C0043379
Disease: XYY Karyotype
XYY Karyotype 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 1 0.010 None 1.000 1 2001 2001
CUI: C4020788
Disease: Xy female gonadal dysgenesis
Xy female gonadal dysgenesis 		disease Congenital Abnormality 1 0.010 None 1.000 1 2000 2000
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
46,Xy True Hermaphroditism, Sry-Related 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 0.020 None 1.000 2 2000 2000
CUI: C0265496
Disease: Tetrasomy X
Tetrasomy X 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 0.010 None 1.000 1 2001 2001
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		disease Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 2 3 0.010 None 1.000 1 2000 2000
CUI: C3502495
Disease: Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
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 0.030 None < 0.001 3 1993 2004
CUI: C1850663
Disease: Muscle hypertrophy of the lower extremities
Muscle hypertrophy of the lower extremities 		phenotype 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 0.100 None 1.000 15 1992 2018
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		disease Disease or Syndrome 4 8 0.010 None 1.000 1 2015 2015
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 19 0.010 None 1.000 1 2011 2011
CUI: C0346170
Disease: Serous cystadenoma of ovary
Serous cystadenoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 5 0.100 None 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		disease Anatomical Abnormality 5 0.100 None 0
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 0.060 None 1.000 6 2010 2019
CUI: C4288538
Disease: Ovotesticular Differences of Sex Development
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 0.040 None 1.000 4 2007 2019
CUI: C0018050
Disease: Gonadal Disorders
Gonadal Disorders 		group Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2008 2008
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 17 0.010 None 1.000 1 2008 2008
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
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 0.800 strong 1.000 18 1 1992 2019
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 2010 2010
CUI: C4551490
Disease: Ovotestis
Ovotestis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.130 None 1.000 3 2000 2002
CUI: C0266360
Disease: Streak gonad
Streak gonad 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0.040 None 1.000 4 1992 2005
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.030 None 1.000 3 1997 2001