Gene: SMN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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
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 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 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 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 Biomarker disease GENOMICS_ENGLAND Identification and characterization of a spinal muscular atrophy-determining gene. 7813012 1995