AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
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: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.050 None 1.000 5 1 2002 2016
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.140 None 1.000 4 2010 2016
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase 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 Congenital Abnormality 50 62 0.040 None 1.000 4 2008 2016
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.040 None 1.000 4 2010 2016
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 3 0.030 None 1.000 3 1 1994 2014
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 1 0.020 None 0.500 2 1 2001 2002
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.020 None 1.000 2 2004 2008
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 0.020 None 1.000 2 2011 2013
CUI: C3264562
Disease: Buried penis
Buried penis 		disease Congenital Abnormality 2 0.020 None 1.000 2 2019 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 2008 2008
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 71 4 0.010 None 1.000 1 2002 2002
CUI: C0014588
Disease: Epispadias
Epispadias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.010 None 1.000 1 2010 2010
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.010 None 1.000 1 2009 2009
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.010 None 1.000 1 2002 2002
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.010 None 1.000 1 2003 2003
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 67 10 0.010 None 1.000 1 2000 2000
CUI: C0038476
Disease: Supernumerary structure
Supernumerary structure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.010 None 1.000 1 2005 2005
CUI: C0235832
Disease: Congenital hernia
Congenital hernia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 1 0.010 None 1.000 1 2012 2012
CUI: C0265950
Disease: Venous malformation
Venous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.010 None 1.000 1 2019 2019
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.010 None 1.000 1 2002 2002
CUI: C0266430
Disease: Polyorchism
Polyorchism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 9 3 0.010 None 1.000 1 2005 2005
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 2018 2018
CUI: C0520578
Disease: Retractile testis
Retractile testis 		disease Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 1 0.010 None 1.000 1 2015 2015
CUI: C0559260
Disease: Congenital scoliosis
Congenital scoliosis 		disease Musculoskeletal Diseases Congenital Abnormality 21 7 0.010 None 1.000 1 2017 2017