SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 CausalMutation phenotype CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607 2013
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 GeneticVariation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0155141
Disease: Acute conjunctivitis
Acute conjunctivitis
0.010 Biomarker disease BEFREE Ad3 isolated from 55 patients with acute conjunctivitis during the period from June 1992 to February 1993 in Japan was assessed by genome typing with restriction endonucleases BamH I, Bgl II, Hind III, and Sma I recognizing 6-base-pair sequences. 10440811 1999
Acute infantile spinal muscular atrophy
0.010 GeneticVariation disease BEFREE Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence. 745212 1978
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 GeneticVariation disease BEFREE Results show that the Sma I polymorphism is strongly associated with increased risk of acute ischemic stroke, however, no association was observed between this polymorphism and AMI. 11755948 2001
CUI: C0278874
Disease: Adult Ependymoma
Adult Ependymoma
0.010 Biomarker disease BEFREE In a retrospective collection of 44 cases (14 astrocytoma, 16 ependymoma and 14 medulloblastoma), immunohistochemistry for VEGFR1, VEGFR2, PDGFRα, PDGFRβ, and c-Kit as well as microvessel labeling with CD34 and SMA were conducted on surgical specimens. 24190638 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE Antioxidant activity of PTR extract was significantly higher (P < 0.05) than those of four its fractions and ostruthin, a key bioactive compound in the P. trimera, while potent cytotoxic capacity of PTR extract on various cancer cell lines in terms of MiaPaCa-2 (pancreas), HT29 (colon), A2780 (ovarian), H460 (lung), A431 (skin), Du145 (prostate), BE2-C (neuroblastoma), MCF-7 (breast), MCF-10A (normal breast), and U87, SJ-G2, SMA (glioblastoma) was observed with GI<sub>50</sub> values ranging from 15 to 32 μg/ml. 28029227 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE Dried PTL displayed potent antioxidant activity, while the powdered PTL extract exhibited great anti-proliferative capacity on various cancer cell lines including MiaPaCa-2 (pancreas), HT29 (colon), A2780 (ovarian), H460 (lung), A431 (skin), Du145 (prostate), BE2-C (neuroblastoma), MCF-7 (breast), MCF-10A (normal breast), and U87, SJ-G2, and SMA (glioblastoma). 28122160 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE In the present study, we investigated the anti-tumor effects of combination therapy with SMA salt and temozolomide (TMZ) in glioblastoma cell lines. 29416760 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE The SMA-540 model may provide a valuable tool to evaluate the influence of host age on glioblastoma progression and treatment response. 29152068 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE SMA salt affected cell viability and caused a concentration-dependent inhibition effect on the migration and invasion of glioblastoma cell lines. 28529591 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE The SE fraction demonstrated potent antioxidant capacity, which was significantly higher than the RE or AQ fraction, and also exhibited strong anti-proliferative activity against 11 cancer cell lines including A2780 (ovarian), H460 (lung), A431 (skin), MIA PaCa-2 (pancreas), Du145 (prostate), HT29 (colon), MCF-7 (breast), BE2-C (neuroblastoma), SJ-G2, U87 and SMA (glioblastoma) with low GI<sub>50</sub> values (≤ 2.00 µg/mL). 30945069 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.070 Biomarker disease BEFREE Importantly, these saponin-enriched fractions possessed strong anticancer activity in vitro towards a range of cancer cell lines including MIA PaCa-2 (pancreas); A2780 (ovarian); H460 (lung); A431 (skin); Du145 (prostate); HT29 (colon); MCF-7 (breast); SJ-G2, U87, SMA (glioblastoma) and BE2-C (neuroblastoma) at low doses (GI<sub>50</sub> values of 0.36-11.17 µg/mL). 30209740 2018
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE In a retrospective collection of 44 cases (14 astrocytoma, 16 ependymoma and 14 medulloblastoma), immunohistochemistry for VEGFR1, VEGFR2, PDGFRα, PDGFRβ, and c-Kit as well as microvessel labeling with CD34 and SMA were conducted on surgical specimens. 24190638 2014
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
0.010 Biomarker disease BEFREE Except EMA, clinical parameters (age, sex, tumor size, tumor sites) and other immunohistochemistry indexes (CK, S-100, neurone specific enolase (NSE), CD99, myoglobin, smooth muscle actin (SMA), cluster of differentiation (CD) 68 and mesothelial cell) had no significant difference between finally diagnosed SS and non-SS. 18460022 2008
CUI: C0860659
Disease: Aloof
Aloof
0.010 Biomarker disease BEFREE GL-261 and SMA-560 glioma cells grown under standard conditions uniformly detached and formed large cell clusters after integrin gene silencing or pharmacological inhibition using EMD-121974, a synthetic Arg-Gly-Asp-motif peptide, or GLPG0187, a nonpeptidic integrin inhibitor. 24457956 2014
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.010 GeneticVariation disease BEFREE Adult forms of SMA are associated with selective grey matter degeneration in the spinal cord with preserved white matter integrity. 30522974 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE We show that SMA and LEN can be internalised within cardiomyocytes and were observed to localise to the perinuclear area, assessed by confocal microscopy as a possible mechanism for underlying cytotoxicity and pathogenesis associated with amyloidosis. 30347409 2018
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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Two motor neuron diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), are caused by distinct genes involved in RNA metabolism, TDP-43 and FUS/TLS, and SMN, respectively. 23255347 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE One copy of SMN1 was associated with an increased risk of developing ALS (odds ratio = 4.1, 95% CI = 1.2 to 14.2, p = 0.02) and ALS patients carried fewer SMN2 copy numbers (p < 0.001). 16093455 2005
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis. 11835381 2002
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Among the shared components are multiple ALS and Spinal muscular Atrophy (SMA)-causative proteins and numerous discrete complexes, including the SMN complex, transcription factor complexes, and RNA processing complexes. 29884807 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE The frequency of SMN1 gene copies differed significantly between the French and Swedish ALS populations. 22274580 2012