SMN1
HGNC:11117 · SaudiVarKB evidence summary derived from retained literature mentions.
11Gene mentions
11Publications
0Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in SMN1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| spinal muscular atrophy | — | 11 | 11 |
| cystic fibrosis | — | 2 | 2 |
| phenylketonuria | — | 1 | 1 |
| Duchenne muscular dystrophy | — | 1 | 1 |
Linked variants
Variants normalized to SMN1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 2 |
| Saudi Arabia | — | — | 1 |
| Not specified | — | — | 1 |
| Saudi Arabia | — | 52 | 1 |
| Saudi Arabia · Riyadh | — | 121 | 1 |
Supporting publications
11 records- 2025Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report.NeuropediatricsPubMed ↗
- 2024Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.International journal of biological macromoleculesPubMed ↗
- 2023Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.CureusPubMed ↗
- 2023Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.Molecular genetics & genomic medicinePubMed ↗
- 2022Spinal muscular atrophy carrier frequency in Saudi Arabia.Molecular genetics & genomic medicinePubMed ↗
- 2018Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes.Biosensors & bioelectronicsPubMed ↗
- 2018Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.Biosensors & bioelectronicsPubMed ↗
- 2015PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy.Molecular therapy : the journal of the American Society of Gene TherapyPubMed ↗
- 2013A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.Molecular genetics & genomic medicinePubMed ↗
- 2005Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.Annals of human geneticsPubMed ↗
- 2003Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.Saudi medical journalPubMed ↗