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: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.020 None 0.500 2 2017 2019
CUI: C0403766
Disease: Acquired phimosis
Acquired phimosis
disease Skin and Connective Tissue Diseases; Male Urogenital Diseases Acquired Abnormality 7 0.020 None 1.000 2 2011 2013
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 1 2009 2009
CUI: C3278509
Disease: Spinal fusion
Spinal fusion
disease Anatomical Abnormality 67 2 0.030 None 1.000 3 2017 2018
Juvenile and adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 4 0.020 None 1.000 2 2012 2014
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.010 None 1.000 1 2018 2018
CUI: C0575157
Disease: Deformity of spine
Deformity of spine
disease Anatomical Abnormality 58 2 0.010 None 1.000 1 2018 2018
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.010 None 1.000 1 2019 2019
CUI: C1854013
Disease: Anisomastia
Anisomastia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 4 0.010 None 1.000 1 2017 2017
CUI: C2051831
Disease: Pectus excavatum
Pectus excavatum
disease Musculoskeletal Diseases; Respiratory Tract Diseases Anatomical Abnormality 12 1 0.010 None 1.000 1 2009 2009
CUI: C3163961
Disease: Dysplastic nodule
Dysplastic nodule
disease Anatomical Abnormality 6 0.010 None 1.000 1 2001 2001
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2018 2018
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia
disease Anatomical Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage
disease Anatomical Abnormality 16 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0
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 0.200 None 0.962 26 1 1990 2020
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 0.957 23 1 1990 2020
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.200 None 1.000 15 1 1998 2018
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 0.200 None 1.000 12 1979 2010
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 0.080 None 1.000 8 3 1998 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.070 None 1.000 7 1994 2019
CUI: C0036875
Disease: Disorders of Sex Development
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 39 6 0.070 None 1.000 7 2009 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.060 None 1.000 6 1987 2007
Klinefelter's syndrome - male with more than two X chromosomes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.060 None 0.833 6 2 2001 2016