AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Male Pseudohermaphroditism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Disturbances in the function of the androgen receptor can lead to several forms of male pseudohermaphroditism, such as androgen insensitivity syndrome, which can lead to infertility. 20198568 2010
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. 20056211 2010
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Furthermore, a novel mutation in the androgen-receptor gene on Xq11.2-q12 was identified in this girl, which led to male pseudohermaphroditism. 16528518 2006
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Mutations in the androgen receptor (AR) gene result in an X-linked recessive form of male pseudohermaphroditism known as the androgen-insensitivity syndrome (AIS). 12006704 2002
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE The androgen insensitivity syndrome (AIS) is an X-linked form of male pseudohermaphroditism caused by mutations in the androgen receptor (AR) gene. 11260228 2001
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822 1998
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Androgen insensitivity syndromes represent one cause of human male pseudohermaphroditism related to defects in the androgen receptor. 8339746 1993
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Androgen insensitivity is also a common cause of MPH; the specific defect in androgen receptor function is currently the subject of intense study, using a combination of biochemical assays and molecular analysis of the androgen receptor gene. 1292987 1992
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE A partial androgen receptor defect was found in a boy with male pseudohermaphroditism and an 11p13 deletion. 3017106 1986
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 Biomarker disease BEFREE A case of male pseudohermaphroditism with normal androgen receptor binding and 47,XYY karyotype. 3876063 1985
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. 6541981 1984
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 GeneticVariation disease BEFREE Binding was approximately half-normal at 37 degrees C and either increased or decreased slightly at 42 degrees C. The thermal instability in receptor-deficient testicular feminization represents a new molecular defect associated with hereditary male pseudohermaphroditism that appears to be caused by an alteration in the tertiary structure of the androgen receptor protein. 500829 1979
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.200 Biomarker disease HPO