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RBM7 and spinal muscular atrophy are reported together in 1 article.
Gene
RBM7
- HGNC
- HGNC:9904
1articles
1mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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
1 records shown · first 60Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
PMID 29727687 | PMCID PMC5986733 | DOI 10.1016/j.ajhg.2018.03.011 · American journal of human genetics · 2018 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RBM7 | “Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | EXOSC9 | “Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.” | 0.98 | hgnc_dict_v1 |
| gene | EXOSC3 | “Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination.” | 0.98 | hgnc_dict_v1 |