STMN1, stathmin 1, 3925

N. diseases: 284; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.100 GeneticVariation disease BEFREE Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. 8677029 1996
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.030 GeneticVariation disease BEFREE Seven index patients being not deleted for the SMN gene who belonged to a well-defined SMA plus variant that has already been shown to be unlinked with chromosome 5q markers: diaphragmatic SMA, SMA plus olivopontocerebellar hypoplasia, SMA with congenital arthrogryposis and bone fractures.2. 8677029 1996
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.100 GeneticVariation disease BEFREE Typical of a large majority of such patients, both the child with spinal muscular atrophy type I and the child with type II were missing both copies of the survival motor neuron telomeric gene (SMN(T)). 8773609 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE Recently, a gene determining spinal muscular atrophy (SMA), termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region. 8786072 1996
CUI: C0030552
Disease: Paresis
Paresis 		0.090 GeneticVariation phenotype BEFREE We have studied the SMN gene in a clinically heterogeneous family, including one patient affected by infantile chronic SMA and three subjects with mild adult-onset muscle weakness. 8786072 1996
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.090 GeneticVariation phenotype BEFREE We have studied the SMN gene in a clinically heterogeneous family, including one patient affected by infantile chronic SMA and three subjects with mild adult-onset muscle weakness. 8786072 1996
CUI: C0270765
Disease: Myelopathic Muscular Atrophy
Myelopathic Muscular Atrophy 		0.010 GeneticVariation disease BEFREE Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family. 8786072 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible. 8787675 1996
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.030 Biomarker disease BEFREE Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible. 8787675 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. 8808598 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis. 8875190 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE The homozygous deletions of exons 7 and 8 of the SMN gene were found in all SMA patients studied. 8882869 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE These data suggest that, in these three families at least, the SMA phenotype is caused or influenced by another gene(s) additional to SMN. 8887955 1996
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		0.050 GeneticVariation disease BEFREE Three type III spinal muscular atrophy (SMA) families are described in which the same deletion pattern for SMN gene and flanking loci is apparent in both affected and unaffected siblings. 8887955 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. 8922999 1996
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.100 GeneticVariation disease BEFREE An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. 8922999 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE Two candidate genes (NAIP and SMN) have recently been reported for childhood onset spinal muscular atrophy (SMA). 8929942 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE In addition, these findings are compatible with a modifying role for the centromeric SMN genes and the NAIP genes in the severity of the SMA phenotype. 8957014 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE Recently, a spinal muscular atrophy (SMA) determining gene, termed survival motor neuron (SMN) gene, has been isolated from the 5q13 region and found deleted in most patients. 8968751 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE This first report of a direct haplotype analysis of SMN and cBCD541 should help clarify the role of cBCD541 in the pathogenesis of SMA. 9002676 1997
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE Our results confirm the variability in the number of NAIP signals in non-SMA chromosomes (2-6) and show that SMN is present on average twice per chromosome although in one chromosome 4-5 signals for the SMN-containing cosmid probe were detected. 9067434 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE Recently, the common forms of spinal muscular atrophy (SMA) have been associated with mutations of the SMN and NAIP genes on chromosome 5, in the region q11.2-13.3. 9073029 1997
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. 9073029 1997
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration. 9147655 1997
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.070 GeneticVariation disease BEFREE The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration. 9147655 1997