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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.400 None 0.884 69 5 1995 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.100 None 0.879 66 5 1995 2019
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: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0.882 17 8 2004 2019
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.400 None 0.824 17 4 2001 2019
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 127 83 0.100 None 0.875 16 9 2004 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: 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 0.070 None 1.000 7 1 1991 2008
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 0.060 None 1.000 6 1 2008 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 0.800 5 2 2002 2015
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: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.430 None 0.500 4 2 2003 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.040 None 0.750 4 2 2002 2015
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 112 107 0.420 None 1.000 4 1 2003 2016
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.140 None 1.000 4 4 2003 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.040 None 1.000 4 1 2001 2011
CUI: C2937421
Disease: Prostatic Hyperplasia
Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 112 1 0.330 None 1.000 4 2002 2010
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.140 None 1.000 4 6 2003 2016
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 362 24 0.030 None 1.000 3 3 2015 2016
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.030 None 1.000 3 3 2015 2016
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 91 743 0.410 None 1.000 3 1 2003 2016
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 0.020 None 1.000 2 1 2006 2019
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: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.020 None 1.000 2 2011 2012
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