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: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		phenotype Finding 17 1 0.100 None 0 1
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C1515283
Disease: Testicular gonadoblastoma
Testicular gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 12 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C4023101
Disease: Elevated circulating luteinizing hormone level
Elevated circulating luteinizing hormone level 		phenotype Finding 23 0.100 None 0
CUI: C4024646
Disease: Aplasia/Hypoplasia of the fallopian tube
Aplasia/Hypoplasia of the fallopian tube 		phenotype Finding 2 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		phenotype Finding 42 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 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: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
PROSTATE CANCER, SUSCEPTIBILITY TO 		phenotype Finding 5 6 0.100 None 0 1
CUI: C0266444
Disease: Congenital absence of vas deferens
Congenital absence of vas deferens 		disease Congenital Abnormality 10 0.100 None 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		disease Finding 24 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C1848182
Disease: Blind vagina
Blind vagina 		disease Congenital Abnormality 3 0.100 None 0
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0
CUI: C1848192
Disease: Absent facial hair
Absent facial hair 		phenotype Congenital Abnormality 3 0.100 None 0
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding) 		phenotype Finding 10 1 0.100 None 0 1
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		phenotype Finding 7 1 0.100 None 0
CUI: C0021359
Disease: Infertility
Infertility 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 130 5 0.100 None 0
CUI: C4016581
Disease: ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER 		disease Finding 1 1 0.100 None 0 1
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0