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 		0.030 GeneticVariation disease BEFREE In conclusion, the clinical phenotype of CAIS resulted from a hAR gene mutation encoding hAR(M745I) with reduced binding and transactivation by androgens, but the novel properties of enhanced affinity for and increased transactivation by estradiol. 17011702 2007
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.030 GeneticVariation disease BEFREE These mutations of hAR gene might be related to the pathogenesis of CAIS. 10834333 2000
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.030 GeneticVariation disease BEFREE We have studied two different missense mutations at arginine-830 in exon 7 of the human androgen receptor (hAR) gene that cause complete androgen insensitivity (CAIS) in three families. 7633398 1995