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 Partial androgen insensitivity syndrome and t(X;5): are there upstream regulatory elements of the androgen receptor gene? 15452386 2004
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Partial androgen insensitivity syndrome with thermolability in the androgen receptor. 16448442 2006
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE PAIS patient P4 has a novel amino acid substitution (Arg760Ser) in the AR ligand binding domain, which may impair ligand binding. 17937062 2007
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. 28456808 2017
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain. 9607727 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain. 9607727 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 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: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome. 10221692 1999
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 A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia. 10470409 1999
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 8823308 1996
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 8823308 1996
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. 18656523 2008
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. 9245853 1997
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity. 7970939 1994
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease BEFREE Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in <25% of patients with a diagnosis of PAIS. 29396419 2018
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 Analysis of a mutant androgen receptor offers a treatment modality in a patient with partial androgen insensitivity syndrome. 9519369 1998
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome 		0.800 GeneticVariation disease UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734 1996