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SMN1 and spinal muscular atrophy are reported together in 13 articles.
Gene
SMN1
- HGNC
- HGNC:11117
13articles
13mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Spinal muscular atrophy
45articles
45mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
13 records shown · first 60Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report.
PMID 39689850 | DOI 10.1055/a-2491-2141 · Neuropediatrics · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 (SMN1) gene mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 (SMN1) gene mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.
PMID 38697430 | DOI 10.1016/j.ijbiomac.2024.131960 · International journal of biological macromolecules · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “SMA, characterized by motor neuron loss, is linked to mutations in the survival of motor neuron 1 (SMN1) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PAH | “PKU, resulting from mutations in the phenylalanine hydroxylase (PAH) gene, exhibits geographical variability and impacts intellectual abilities.” | 0.98 | hgnc_dict_v1 |
| phenotype | phenylketonuria | “Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.” | 0.98 | phenotype_alias_lexicon_v2 |
Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.
PMID 37964750 | PMCID PMC10724519 | DOI 10.1002/mgg3.2184 · Molecular genetics & genomic medicine · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN2 | “METHODS: We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “CONCLUSION: The SMA carrier frequency in Qatar was found to be comparable to Saudi Arabia and Caucasians.” | 0.95 | saudi_context_rules_v1 |
Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.
PMID 37927698 | PMCID PMC10623204 | DOI 10.7759/cureus.46452 · Cureus · 2023 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “It is an autosomal recessive disease with the mutation of the survival motor neuron 1 (SMN1) gene as a hallmark.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN2 | “Evidence suggests that the SMN2 gene modulates the severity of the disease.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia. This study aims to describe the genetic makeup and characteristics of an SMA cohort in the Kingdom of Saudi Arabia (KSA). RESULTS AND DISCUSSION: Seventeen families were enrolled in the study, including 52 children. Further studies are needed to understand the burden and impact of SMA among the Saudi population.” | 0.95 | saudi_context_rules_v1 |
Spinal muscular atrophy carrier frequency in Saudi Arabia.
PMID 36062320 | PMCID PMC9651606 | DOI 10.1002/mgg3.2049 · Molecular genetics & genomic medicine · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal muscular atrophy carrier frequency in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN2 | “To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Spinal muscular atrophy carrier frequency in Saudi Arabia. Although no large-scale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages. We estimated the birth incidence of SMA to be 32 per 100,000 birth and the total number of people living with SMA in the Kingdom of Saudi Arabia to be 2265 of which 188 are type I, 1213 are type II, and 8,64 are type III. CONCLUSION: The SMA carrier rate of 2.6% in Saudi control subjects is slightly higher than the reported global frequency of 1.25 to 2% with links to the high degree of consanguinity.” | 0.95 | saudi_context_rules_v1 |
Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.
PMID 29890394 | DOI 10.1016/j.bios.2018.05.048 · Biosensors & bioelectronics · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CFTR | “Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.” | 0.98 | phenotype_alias_lexicon_v2 |
The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.
PMID 30565205 | DOI 10.5603/FHC.a2018.0022 · Folia histochemica et cytobiologica · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | GLE1 | “The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.” | 0.98 | hgnc_dict_v1 |
| gene | FUS | “The expression of SMN1, MART3, GLE1 and FUS genes in spinal muscular atrophy.” | 0.98 | hgnc_dict_v1 |
Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes.
PMID 29096367 | DOI 10.1016/j.bios.2017.10.015 · Biosensors & bioelectronics · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “Currently, definitive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal muscular atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron (SMN) 1 gene which encodes the SMN protein.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | CFTR | “The voltammetric SMN carbon nanofiber-based immunosensor showed high sensitivity (detection limit of 0.75pg/ml) and selectivity against other proteins such as cystic fibrosis transmembrane conductance regulator (CFTR) and dystrophin (DMD).” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “The voltammetric SMN carbon nanofiber-based immunosensor showed high sensitivity (detection limit of 0.75pg/ml) and selectivity against other proteins such as cystic fibrosis transmembrane conductance regulator (CFTR) and dystrophin (DMD).” | 0.98 | phenotype_alias_lexicon_v2 |
Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy.
PMID 29552580 | PMCID PMC5852384 | DOI 10.1016/j.omtm.2018.01.007 · Molecular therapy. Methods & clinical development · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “SMA is caused by mutations in the survival motor neuron gene (SMN1), leading to reduced levels of SMN protein in the CNS.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PLS3 | “The actin-binding protein plastin 3 (PLS3) has been reported as a modifier for SMA, making it a potential therapeutic target.” | 0.98 | hgnc_dict_v1 |
PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.
PMID 25369768 | PMCID PMC4445616 | DOI 10.1038/mt.2014.209 · Molecular therapy : the journal of the American Society of Gene Therapy · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | PTEN | “PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.” | 0.98 | hgnc_dict_v1 |
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
PMID 24498607 | PMCID PMC3865576 | DOI 10.1002/mgg3.10 · Molecular genetics & genomic medicine · 2013 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “The consanguineous parents carry the same two mutations within one SMN1 gene copy.” | 0.80 | saudi_context_rules_v1 |
| variant | c.48_55dupGGATTCCG | “We report a patient with SMA who is homozygous for two mutations carried in cis: an 8 bp duplication (c.48_55dupGGATTCCG; p.Val19fs*24) and a point mutation (c.662C>T; p.Pro221Leu).” | 0.95 | hgvs_regex_v1 |
Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.
PMID 15720302 | DOI 10.1046/j.1529-8817.2004.00149.x · Annals of human genetics · 2005 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2).” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN2 | “The SMA-determining gene, called the survival of motor neuron gene (SMN), is present on 5q13 in two nearly identical copies, telomeric SMN (SMN1) and centromeric SMN (SMN2).” | 0.98 | hgnc_dict_v1 |
Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
PMID 14578966 · Saudi medical journal · 2003 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMN1 | “Deletions or mutations in 2 genes, telomeric form of the survival motor neuron (SMN1) and the neuronal apoptosis inhibitory protein (NAIP), are known to be associated with SMA.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | NAIP | “Deletions or mutations in 2 genes, telomeric form of the survival motor neuron (SMN1) and the neuronal apoptosis inhibitory protein (NAIP), are known to be associated with SMA.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Riyadh | “Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy. The prevalence of SMA cases in the Kingdom of Saudi Arabia (KSA) is much higher than the European and North American population. The aim of this study is to examine the deletions or interruptions of the SMN1 and NAIP genes in Saudi patients. METHODS: The study included 121 Saudi SMA patients [type I (60 patients); type II (26 patients); and type III (35 patients)]. The study was carried out at the King Fahad National Guard Hospital, Riyadh, KSA between 2000 and 2002. CONCLUSION: Our results demonstrate that the deletion rate (94%) of the SMN1 gene in Saudi SMA patients is similar, irrespective of types, compared with patients of other ethnic groups. We also show that the incidence of NAIP deletion is higher in the more severe SMA cases and the dual deletion of the SMN1 and NAIP genes are more common in Saudi SMA type I patients compared with patients of other ethnic groups.” | 0.95 | saudi_context_rules_v1 |