AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Reifenstein Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 1303262 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 1303262 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease CTD_human A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. 1303262 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. 1316540 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Molecular analysis of the androgen receptor gene in 52 patients with complete or partial androgen insensitivity syndrome: a collaborative study. 1356901 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE We previously showed that the number of CAG repeats within the AR gene exon 1 in 23 families with complete or partial androgen insensitivity syndrome was 19 +/- 4. 1472458 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. 1598912 1992
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE In this study, we report the association of the Hind II polymorphism in a woman whose son has a PAIS associated with a very low androgen receptor concentration: we differentiated the two maternal X chromosomes and characterized the affected allele. 1683208 1991
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. 2010552 1991
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease BEFREE Clinical and endocrinological characterization of two subjects with Reifenstein syndrome associated with qualitative abnormalities of the androgen receptor. 3106178 1987
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease BEFREE The study of androgen-dependent proteins and other androgen-receptor "markers" should offer the clinician a better management of partial androgen insensitivity and allow, in amniotic or trophoblastic cells, a prenatal diagnosis of androgen resistance in high-risk families. 3521447 1986
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease BEFREE We have studied various properties of the binding of 5 alpha-dihydrotestosterone (DHT) or the synthetic, nonmetabolizable androgen methyltrienolone (R1881; 17 beta-hydroxy-17 alpha-methylestra-4,9,11-trien-3-one) to the androgen receptor of genital skin fibroblasts (GSF) from controls and a subject with familial, receptor-positive, partial androgen insensitivity. 6332533 1984
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 7581399 1995
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 Biomarker disease BEFREE With this finding we demonstrate that the destruction of dimerization of the androgen receptor is one of the causes of Reifenstein syndrome. 7649358 1995
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT With this finding we demonstrate that the destruction of dimerization of the androgen receptor is one of the causes of Reifenstein syndrome. 7649358 1995
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849 1995
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT In a large family with Reifenstein syndrome, we previously performed molecular analysis of the androgen receptor gene. 7909256 1994