AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Testicular Feminization ×
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 CTD_human Androgen receptor gene mutation in male breast cancer. 8281139 1993
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism. 8096390 1993
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome. 8224266 1993
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Mutations in the androgen receptor gene cause phenotypic abnormalities of male sexual development that range from a female phenotype (complete testicular feminization) to that of undervirilized or infertile men. 8421085 1993
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 Biomarker disease RGD Distribution of androgen receptor immunoreactivity in the spinal cord of wild-type, androgen-insensitive and gonadectomized male rats. 7643075 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families. 7633398 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Complete or gross deletions of the androgen receptor gene have not been found frequently in persons with complete androgen insensitivity syndrome. 7626493 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE The purpose of this study was to evaluate the use of the polyglutamine and polyglycine trinucleotide repeat polymorphisms in the first exon of the androgen receptor gene for carrier status determination in three CAIS families. 7641413 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE We studied the structure of the androgen receptor gene in a patient with the receptor-negative form of complete testicular feminization and another patient with a receptor-reduced form of incomplete testicular feminization. 8830623 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE This premature termination mutation (or nonsense mutation), introducing a truncated androgen receptor that lacks most of its androgen binding capacity, is though to cause the receptor-negative form of complete androgen insensitivity syndrome in this patient. 8574287 1995
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Complete or gross deletions of the androgen receptor gene have not been frequently found in persons with the complete androgen insensitivity syndrome, whereas point mutations at several different sites in exons 2-8 encoding the DNA- and androgen-binding domain have been reported in both partial and complete forms of androgen insensitivity, with a relatively high number of mutations in two clusters in exons 5 and 7. 8732995 1996
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE The first detection of complete androgen insensitivity with no mutation in the coding sequence of the androgen receptor gene. 9159192 1996
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Androgen receptor gene mutations are found in nearly all cases of complete androgen insensitivity but rarely in partial forms (Patterson et al., 1994). 9039330 1996
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 Biomarker disease BEFREE Our data substantiate the major contribution of leucine 707 to normal AR function and demonstrate that its substitution by an arginine caused the complete androgen insensitivity in this patient. 8626869 1996
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. 9328206 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE These experiments revealed that the functional difference between a mutant AR that causes a partial and one that causes a complete androgen insensitivity may be very small. 9302173 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 Biomarker disease BEFREE When assayed using this method, the AR function of patients with Reifenstein syndrome was intermediate between that of normal control subjects and that of patients with complete testicular feminization. 9177411 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Premature stop codons of the human androgen receptor (AR) gene are usually associated with a complete androgen insensitivity syndrome. 9360511 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor. 9332480 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE In this study, we analyzed the androgen receptor gene in 2 cases with complete androgen insensitivity syndrome (CAIS). 9255042 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 AlteredExpression disease BEFREE We have discovered two types of 5' intronic gene mutation that impair androgen receptor (AR) mRNA expression severely, and cause complete androgen insensitivity. 9156321 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Two subjects with CAIS resulting from a complete deletion of the AR gene have previously been reported, one of whom also has MR. We have identified another mentally retarded person with a complete deletion of the AR gene. 9039995 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE This is the first documentation of a point mutation in the AR gene which causes exon skipping and proves that the mutation is the cause of CAIS in our two subjects. 9296379 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 AlteredExpression disease BEFREE Shortage of glutamine (CAG) homopolymeric repeats suppresses the expression of the androgen receptor in familial cases with complete androgen insensitivity syndrome. 9526703 1998