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: C0023418
Disease: leukemia
leukemia 		0.040 Biomarker disease BEFREE The increase in Op18 polypeptide in leukemia is associated with increased RNA transcription without gene amplification or rearrangement. 1917919 1991
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.040 Biomarker disease BEFREE The increase in Op18 polypeptide in leukemia is associated with increased RNA transcription without gene amplification or rearrangement. 1917919 1991
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 AlteredExpression disease BEFREE Our findings suggest that the high amount of Op18 protein in acute leukemia results from increased expression of a structurally unaltered gene. 1917919 1991
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.060 PosttranslationalModification disease BEFREE Our findings provide evidence for distinct patterns of Op18 phosphorylation in neuroblastoma tumors with and without N-myc gene amplification. 2267130 1990
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.060 PosttranslationalModification disease BEFREE Our findings provide evidence for distinct patterns of Op18 phosphorylation in neuroblastoma tumors with and without N-myc gene amplification. 2267130 1990
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.060 PosttranslationalModification disease BEFREE Our findings provide evidence for distinct patterns of Op18 phosphorylation in neuroblastoma tumors with and without N-myc gene amplification. 2267130 1990
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 AlteredExpression disease BEFREE We have recently identified and cloned the gene for a cytosolic polypeptide, designated oncoprotein 18 (Op18), which is expressed in acute lymphocytic leukemia and some solid tumors including neuroblastoma. 2267130 1990
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 AlteredExpression disease BEFREE We have recently identified and cloned the gene for a cytosolic polypeptide, designated oncoprotein 18 (Op18), which is expressed in acute lymphocytic leukemia and some solid tumors including neuroblastoma. 2267130 1990
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		0.020 AlteredExpression group BEFREE Expression of phosphoprotein p19 in brain, testis, and neuroendocrine tumor cells. Developmental regulation in rat brain. 3042790 1988
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE In both cases the patients were homozygously deleted for the survival motor neuron (SMN) gene (exons 7 and 8) but only the type I SMA patient was deleted for the neuronal apoptosis inhibitory protein (NAIP) gene (exons 5 and 6). 7581364 1995
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE This observation gives strong support to the view that mutations of the SMN gene are responsible for the SMA phenotype as it is the first frameshift mutation reported in SMA. 7581461 1995
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		0.090 Biomarker disease BEFREE Molecular diagnosis of childhood proximal spinal muscular atrophy has been enhanced by the discovery of the survival motor neuron (SMN) gene, which is absent or truncated in 98.6% of patients. 7658877 1995
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 AlteredExpression disease BEFREE We show that the SmN gene is transcribed at significantly elevated levels in peripheral blood mononuclear cells (PBMCs) from SLE patients compared to normal controls. 7772706 1994
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 AlteredExpression disease BEFREE We show that the SmN gene is transcribed at significantly elevated levels in peripheral blood mononuclear cells (PBMCs) from SLE patients compared to normal controls. 7772706 1994
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 GeneticVariation disease BEFREE These data suggest that this gene, termed the survival motor neuron (SMN) gene, is an SMA-determining gene. 7813012 1995
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 AlteredExpression phenotype BEFREE Taken altogether, the results suggest that up-regulation Op18 levels in leukemia/lymphoma cells are strongly associated with, but not a direct cause of tumour progression. 8464235 1993
CUI: C0023418
Disease: leukemia
leukemia 		0.040 AlteredExpression disease BEFREE Taken altogether, the results suggest that up-regulation Op18 levels in leukemia/lymphoma cells are strongly associated with, but not a direct cause of tumour progression. 8464235 1993
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.040 AlteredExpression disease BEFREE Taken altogether, the results suggest that up-regulation Op18 levels in leukemia/lymphoma cells are strongly associated with, but not a direct cause of tumour progression. 8464235 1993
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.020 AlteredExpression group BEFREE Taken altogether, the results suggest that up-regulation Op18 levels in leukemia/lymphoma cells are strongly associated with, but not a direct cause of tumour progression. 8464235 1993
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		0.020 AlteredExpression disease BEFREE Taken altogether, the results suggest that up-regulation Op18 levels in leukemia/lymphoma cells are strongly associated with, but not a direct cause of tumour progression. 8464235 1993
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		0.020 AlteredExpression disease BEFREE Taken altogether, the results suggest that up-regulation Op18 levels in leukemia/lymphoma cells are strongly associated with, but not a direct cause of tumour progression. 8464235 1993
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 Biomarker disease BEFREE The SMN gene is homozygously deleted for both exons 7 and 8 or exon 7 only in 96% of type I SMA, 94% of type II SMA and 82% of type III SMA as well as in 0.3% of SMA parents. 8595417 1995
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 GeneticVariation disease BEFREE We have therefore investigated the possibility of alterations in SMN and NAIP in 154 patients with ALS (135 sporadic cases, 17 familial cases). 8651652 1996
CUI: C4024957
Disease: Proximal spinal muscular atrophy
Proximal spinal muscular atrophy 		0.090 GeneticVariation disease BEFREE Recently, deletions of the neuronal apoptosis inhibitory protein gene NAIP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system. 8651652 1996
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.100 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