AR, androgen receptor, 367

N. diseases: 564; N. variants: 91
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.
Type I familial incomplete male pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 20 0.300 41 20 1991 2004
Bulbospinal neuronopathy, X-linked recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.350 0.800 5 1992 1999
CUI: C2713546
Disease: Androgen Receptor Deficiency
Androgen Receptor Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.310 < 0.001 3 1984 1994
CUI: C0017412
Disease: Genital Diseases, Male
Genital Diseases, Male
group Male Urogenital Diseases Disease or Syndrome 1 0.300 1 2015 2015
CUI: C0235832
Disease: Congenital hernia
Congenital hernia
disease Congenital Abnormality 1 0.010 1.000 1 2012 2012
Disorder of male reproductive system
group Disease or Syndrome 1 0.010 1.000 1 2015 2015
CUI: C3273251
Disease: Sclerosing Polycystic Adenosis
Sclerosing Polycystic Adenosis
disease Neoplastic Process 1 0.010 1.000 1 2006 2006
Langerhans cell histiocytosis of skin
disease Neoplastic Process 1 0.010 1.000 1 2010 2010
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
phenotype Finding 1 1 0.100 1 1 1994 1994
CUI: C0860159
Disease: Partial androgen resistance
Partial androgen resistance
disease Disease or Syndrome 1 0.300 0
CUI: C1848182
Disease: Blind vagina
Blind vagina
disease Congenital Abnormality 1 0.100 0
CUI: C4021228
Disease: Gonadal neoplasm
Gonadal neoplasm
disease Neoplastic Process 1 0.100 0
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO
phenotype Finding 2 2 0.100 3 1 1996 2000
CUI: C0541403
Disease: Neuroendocrine disease or syndrome
Neuroendocrine disease or syndrome
group Disease or Syndrome 2 0.010 1.000 1 2006 2006
CUI: C2197691
Disease: Scrotal hypospadias
Scrotal hypospadias
disease Congenital Abnormality 2 1 0.010 1.000 1 2010 2010
CUI: C2717866
Disease: Vestibulodynia
Vestibulodynia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 2 0.010 1.000 1 2015 2015
CUI: C1859391
Disease: Absent pubic hair
Absent pubic hair
phenotype Finding 2 0.100 0
Absent or rudimentary fallopian tubes
phenotype Anatomical Abnormality 2 0.100 0
Aplasia/Hypoplasia of the fallopian tube
phenotype Finding 2 0.100 0
Prostatic Neoplasms, Castration-Resistant
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3 0.300 3 2009 2017
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 3 0.600 2 2 1993 1996
CUI: C0017250
Disease: Psychosexual identity disorder
Psychosexual identity disorder
group Mental or Behavioral Dysfunction 3 0.010 1.000 1 2009 2009
CUI: C0038476
Disease: Supernumerary structure
Supernumerary structure
disease Congenital Abnormality 3 0.010 1.000 1 2006 2006
Malignant neoplasm of endocrine gland
disease Neoplastic Process 3 0.010 1.000 1 2002 2002
Female infertility associated with anovulation
disease Disease or Syndrome 3 0.010 1.000 1 2000 2000