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.
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens
disease Congenital Abnormality 3 0.100 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 225 27 0.100 0
CUI: C1859391
Disease: Absent pubic hair
Absent pubic hair
phenotype Finding 2 0.100 0
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair
phenotype Finding 6 0.100 0
Creatine phosphokinase serum increased
phenotype Finding 158 16 0.100 0
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 8 0.100 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding)
phenotype Finding 5 0.100 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Disease or Syndrome 258 3 0.100 0
CUI: C1848192
Disease: Absent facial hair
Absent facial hair
disease Congenital Abnormality 3 0.100 0
CUI: C0860159
Disease: Partial androgen resistance
Partial androgen resistance
disease Disease or Syndrome 1 0.300 0
CUI: C0021359
Disease: Infertility
Infertility
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 72 1 0.100 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 308 66 0.100 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair
phenotype Finding 34 0.100 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair
phenotype Finding 39 0.100 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype Finding 19 3 0.100 0
Neurogenic muscle atrophy, especially in the lower limbs
phenotype Finding 214 0.100 0
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 227 0.100 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality
phenotype Finding 37 0.100 0
Female external genitalia in individual with 46,XY karyotype
phenotype Finding 15 0.100 0
CUI: C1848182
Disease: Blind vagina
Blind vagina
disease Congenital Abnormality 1 0.100 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 190 4 0.100 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia
phenotype Finding 6 0.100 0
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Mental or Behavioral Dysfunction 31 1 0.100 0
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 17 0.100 0
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum
disease Congenital Abnormality 19 0.100 0