|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
"Genetic analysis of a family with 46,XY ""female"" associated with infertility."
|
16450583 |
2006 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Spinal and Bulbar Muscular Atrophy (SBMA) is caused by the extension of the polyglutamine tract within the androgen receptor (AR) gene, and results in a multisystem presentation, including the degeneration of lower motor neurons.
|
31551920 |
2019 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (Kennedy disease) is an adult form of X-linked motor neuron disease caused by the expansion of a polymorphic CAG-repeat sequence in the first exon of the androgen receptor gene.
|
10899444 |
2000 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Kennedy's disease is a degenerative disease of motor neurons in which the causative mutation is expansion of a CAG/polyglutamine tract near the 5' end of the androgen receptor gene.
|
12165558 |
2002 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine disease caused by the expansion of a CAG repeat in the androgen receptor (AR) gene.
|
12372280 |
2002 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Kennedy's disease. Phosphorylation of the polyglutamine-expanded form of androgen receptor regulates its cleavage by caspase-3 and enhances cell death.
|
12824190 |
2003 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy is a motor neuronopathy caused by a polyglutamine expansion in the androgen receptor (AR).
|
12962912 |
2003 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SBMA is caused by polyglutamine repeat expansions in the androgen receptor (AR).
|
15003169 |
2004 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene.
|
15851746 |
2005 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SBMA is caused by mutation of the expanded polyglutamine (polyQ) stretches in the AR gene.
|
16079302 |
2005 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motoneuron disease caused by a CAG-repeat expansion in the androgen receptor (AR) gene and for which no curative therapy exists.
|
16621916 |
2006 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) has a variable prognosis.
|
17364438 |
2007 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy or Kennedy disease (KD) is an X-linked neurodegenerative disease caused by an expansion of a polymorphic tandem CAG repeat within the androgen receptor (AR) gene on chromosomal locus Xq11-q12.
|
17596176 |
2007 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is an X-linked adult motor neuron disorder caused by an abnormal CAG-repeat expansion in the first exon of the androgen receptor gene.
|
17852020 |
2008 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is an adult form of X-linked motor neuron disease caused by an expansion of a CAG repeat sequence in the first exon of the androgen receptor (AR) gene.
|
17854832 |
2008 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, lower motor neuron disease caused by an aberrant elongation of a CAG repeat in the androgen receptor (AR) gene.
|
18056738 |
2008 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene.
|
18642379 |
2008 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Kennedy disease (KD, or spinal and bulbar muscular atrophy) is caused by a CAG/polyglutamine expansion in the androgen receptor (AR) gene.
|
18775514 |
2008 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR).
|
19399234 |
2009 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by the expansion of a trinucleotide CAG repeat in the androgen receptor (AR) gene.
|
19965845 |
2010 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) is a fatal neurodegenerative disease characterized by the selective loss of motor neurons in the bulbar region of the brain and in the anterior horns of the spinal cord.
|
20621188 |
2010 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
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 |