AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by an expanded CAG repeat in the androgen receptor (AR) gene. 31537808 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 Biomarker group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). 30644418 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 Biomarker group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by a polyglutamine (polyQ) expansion in the androgen receptor (AR). 31686397 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 Biomarker group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a late-onset neurodegenerative neuromuscular disease without effective therapy, and the protein toxicity of androgen-dependent polyglutamine-expanded androgen receptor is thought to contribute to its etiology. 31310754 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 Biomarker group BEFREE Stabilizing the NTD-Hsp70 interaction with small molecules reduces AR aggregation and promotes its degradation in cellular and mouse models of the neuromuscular disorder spinal bulbar muscular atrophy. 31395886 2019
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and Bulbar Muscular Atrophy (SBMA) is an inherited neuromuscular disorder caused by a CAG-polyglutamine (polyQ) repeat expansion in the androgen receptor (AR) gene. 29427100 2018
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. 28087734 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. 26872663 2016
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). 26971100 2016
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 Biomarker group BEFREE Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. 26515625 2015
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a CAG repeat in the androgen receptor (AR) gene. 25168383 2015
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 Biomarker group BEFREE Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. 25047668 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinobulbar muscular atrophy (SBMA) is an inherited neuromuscular disorder caused by the expansion of a CAG repeat encoding a polyglutamine tract in exon 1 of the androgen receptor (AR) gene. 24150846 2014
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disease caused by expansion of a polyglutamine (polyQ) tract in the androgen receptor (AR). 23644820 2013
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE Expansion of polyglutamine in the androgen receptor is responsible for spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder characterized by the loss of lower motor neurons in the brainstem and spinal cord. 21745497 2011
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 GeneticVariation group BEFREE CAG repeat expansions in the AR have been associated with male infertility and the neuromuscular disease, spinal bulbar muscular atrophy (SBMA). 10956560 2000