×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
Biomarker
disease
GENOMICS_ENGLAND
Spinal muscular atrophy genetic testing experience at an academic medical center.
11826188
2002
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
UNIPROT
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
9837824
1998
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
UNIPROT
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
9158159
1997
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
Biomarker
disease
GENOMICS_ENGLAND
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
8787675
1996
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
BEFREE
All the 32 SMA1 patients and 76% (13/17) of SMA2 patients showed homozygous deletions for exon 7 and exon 8, and all the 13 SMA3 patients showed single deletion of SMN1 exon 7 along with 24% (4/17) of SMA2 patients.
19198020
2009
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
Biomarker
disease
BEFREE
Loss of motor units may be widespread in the early stage of SMA I , while specific to the legs in young SMA II patients.
22512990
2013
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
Biomarker
disease
BEFREE
To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2 /3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning.
23077013
2012
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
Biomarker
disease
CTD_human
5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
17924536
2008
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
UNIPROT
Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.
10732802
1998
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
UNIPROT
Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
14715275
2004
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
CausalMutation
disease
CLINVAR
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
24498607
2013
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
Biomarker
disease
GENOMICS_ENGLAND
Identification and characterization of a spinal muscular atrophy-determining gene.
7813012
1995
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
UNIPROT
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
21088113
2011
×
Entrez Id:
6606
Gene Symbol:
SMN1
SMN1
0.740
GeneticVariation
disease
BEFREE
Exons 7 and 8 of SMN and NAIP (exon 5) were homozygously deleted in 73% of SMA I and 27% of SMA II patients.
16936383
2006