SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
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: C0949628
Disease: Uniparental Disomy
Uniparental Disomy 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 1 0.100 None 0
CUI: C4020961
Disease: Displacement of the external urethral meatus
Displacement of the external urethral meatus 		disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0005001
Disease: Benign prostatic hypertrophy
Benign prostatic hypertrophy 		phenotype Male Urogenital Diseases Pathologic Function 4 0.300 None 1.000 1 2010 2010
CUI: C0403766
Disease: Acquired phimosis
Acquired phimosis 		disease Skin and Connective Tissue Diseases; Male Urogenital Diseases Acquired Abnormality 7 0.010 None < 0.001 1 2018 2018
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system 		disease Anatomical Abnormality 7 1 0.100 None 0
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		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 8 42 0.800 strong 1.000 64 39 1977 2019
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase 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 8 5 0.600 None 1.000 13 2 1992 2019
CUI: C0345326
Disease: Congenital phimosis
Congenital phimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases Congenital Abnormality 8 1 0.010 None < 0.001 1 2018 2018
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 0.110 None 1.000 1 4 2019 2019
CUI: C0520477
Disease: Prostatic Adenoma
Prostatic Adenoma 		disease Male Urogenital Diseases Neoplastic Process 8 0.300 None 1.000 1 2010 2010
CUI: C0555232
Disease: pseudohermaphrodite (non-specific)
pseudohermaphrodite (non-specific) 		disease Disease or Syndrome 9 2 0.020 None 1.000 2 1 1998 2004
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 2008 2008
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		disease Disease or Syndrome 10 8 0.050 None 1.000 5 3 2002 2012
CUI: C0342513
Disease: Idiopathic hirsutism
Idiopathic hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.010 None 1.000 1 2011 2011
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding 13 1 0.100 None 0
CUI: C0263477
Disease: Female pattern alopecia (disorder)
Female pattern alopecia (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.300 None 1.000 1 2007 2007
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 0.020 None 1.000 2 1 1996 2008
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C3273019
Disease: Early Hepatocellular Carcinoma
Early Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2010 2010
CUI: C0086873
Disease: Pseudopelade
Pseudopelade 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.300 None 1.000 1 2007 2007
CUI: C0432470
Disease: 46, XY female
46, XY female 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 25 5 0.020 None 1.000 2 1 2011 2012
CUI: C0178879
Disease: Urinary tract obstruction
Urinary tract obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 0.010 None 1.000 1 2015 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 0.100 None 0.909 11 2 2008 2019
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0265987
Disease: Nevus comedonicus
Nevus comedonicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 6 0.010 None < 0.001 1 2016 2016