AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE CNS involvement in SBMA should not be neglected as a phenotypic manifestation of SBMA and, apart from cognitive involvement, may help to differentiate clinically SBMA from other types of motor neuron disease. 31351215 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a motor neuron disease caused by the expansion of a polymorphic CAG tandem repeat encoding a polyglutamine (polyQ) tract in the androgen receptor (AR) gene. 28511915 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by a CAG trinucleotide expansion in the androgen receptor (AR) gene. 24041967 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy. 24742458 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Kennedy disease (spinal and bulbar muscular atrophy, or SBMA) is a motor neuron disease caused by a CAG expansion in the androgen-receptor (AR) gene. 24894177 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease that is caused by the expansion of a polyQ tract within the androgen receptor (AR). p62 is a ubiquitin- and light-chain 3-binding protein that is known to regulate the degradation of targeted proteins via autophagy and inclusion formation. 23637164 2013
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor (AR) gene. 23364790 2013
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a late-onset motor neuron disease (MND) caused by an abnormal expansion of the CAG repeat in the androgen receptor (AR) gene on the X-chromosome, encoding a polyglutamine (poly-Q) sequence in the protein product. 21317158 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA) is a motor neuron disease caused by polyglutamine expansion mutation in the androgen receptor (AR). 18824496 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. 17997416 2008
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease caused by the expansion of a polyglutamine tract within the androgen receptor (AR). 17494697 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA) is an inherited adult onset motor neuron disease caused by the expansion of a polyglutamine (polyQ) tract within the androgen receptor (AR), affecting only males. 15659427 2005
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Kennedy's disease (spinobulbar muscular atrophy) is an X-linked form of motor neuron disease affecting adult males carrying a CAG trinucleotide repeat expansion within the androgen receptor gene. 14999487 2004
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease caused by the expansion of the polyglutamine (polyQ) tract within the androgen receptor (AR). 12657679 2003
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE X-linked spinal and bulbar muscular atrophy is characterized by adult onset motor neuron disease and results from a defect in the androgen receptor. 11499674 2001
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE The androgen receptor contains a polymorphic polyglutamine repeat and expansion of this repeat to beyond approximately 40 causes spinobulbar muscular atrophy (SBMA; also known as Kennedy's disease), a genetic form of motor neurone disease. 10643885 1999
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE In more recent years, however, mutations in the AR gene have been described in a number of diverse clinical conditions, from male infertility to prostate and breast cancer through to a form of motor neurone disease (Kennedy's disease). 7489816 1995
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE X-linked spinal and bulbar muscular atrophy (SBMA), a motor neuron disease associated with androgen insensitivity, is caused by androgen receptor gene mutations with an increased number of tandem CAG repeats in exon 1. 1461383 1992