AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 Biomarker disease BEFREE Complete androgen insensitivity (CAIS) is a difference of sex development, in which there is complete androgen receptor resistance, leading to a female phenotype, despite the presence of normal testes. 30825542 2019
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. 30970592 2019
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Sequencing of the AR gene in all patients and suspected family members revealed pathogenic variants in the AR gene and confirmed the molecular diagnosis of CAIS. 31012339 2019
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 Biomarker disease BEFREE Here, we describe a novel splice-site intron 1 mutation in AR leading to improper splicing and AR protein absence in CAIS gonads. 31283987 2019
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE We have identified 2 mutations in the AR gene that resulted in complete androgen insensitivity syndrome (CAIS) in 2 unrelated cases. 30165367 2018
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance. 29118296 2018
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism. 30705665 2018
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE The diagnosis of CAIS in this patient was established by infantile female genitalia, absence of ovary and uterus, history of gonadectomy, 46,XY karyotype, and carried a mutation c.2751C>G (p.917F > L) in androgen receptor gene. 30113450 2018
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE This tentative theory is partially supported by lower 2D:4D in girls with congenital adrenal hyperplasia (CAH), higher 2D:4D in individuals with complete androgen insensitivity syndrome (CAIS) and a relationship between 2D:4D and polymorphisms in the androgen receptor. 28613048 2017
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity. 28299491 2017
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). 28456808 2017
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations. 28743543 2017
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. 27583472 2016
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 Biomarker disease BEFREE Our results show that patients with CAIS and normal AR coding region need to be examined for deep intronic mutations that can lead to pseudoexon activation. 27609317 2016
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Here we describe a recurrent germline mutation found in two unrelated patients with complete androgen insensitivity syndrome (CAIS) generating an upstream open reading frame (uORF) in the 5' untranslated region (5'-UTR) of the androgen receptor (AR) gene. 27110943 2016
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE A novel insA2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome. 25997614 2015
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome. 26592841 2015
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 Biomarker disease BEFREE To address this, we generated a novel mouse model in which androgen receptor (AR) is ablated from ∼75% of adult Leydig stem cell/cell progenitors, from fetal life onward (Leydig cell AR knockout mice), permitting interrogation of the specific roles of autocrine Leydig cell AR signaling through comparison to adjacent AR-retaining Leydig cells, testes from littermate controls, and to human testes, including from patients with complete androgen insensitivity syndrome (CAIS). 25404712 2015
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen Insensitivity Syndrome or MAIS). 24186597 2013
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Complete androgen insensitivity syndrome and discordant Müllerian remnants: two cases with novel mutation in the androgen receptor. 23729616 2013
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS). 23637914 2013
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE We analyzed a case of complete androgen insensitivity syndrome (CAIS) for mutations in the AR gene. 24055831 2013
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. 23329762 2012
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 Biomarker disease BEFREE A novel androgen receptor gene mutation in the ligand binding domain was detected in the present patient with CAIS, supporting the important role of an androgen receptor defect in the etiology of CAIS. 22608796 2012
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
0.600 GeneticVariation disease BEFREE A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome. 22487869 2012