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NEB and spinal muscular atrophy are reported together in 1 article.
Gene
NEB
- HGNC
- HGNC:7720
4articles
4mentions
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 60A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia.
PMID 38239845 | PMCID PMC10796190 | DOI 10.7759/cureus.52523 · Cureus · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NEB | “It can be caused by mutations in at least 12 genes, with the nebulin (NEB) gene being the most common.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “The patient was first suspected to have spinal muscular atrophy as there was no previous nemaline myopathy case reported from Al-Qunfudhah.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | arthrogryposis | “Examination revealed arthrogryposis, bilateral small chin, undescended testicle, joint deformity, hip dislocation, and clubfoot.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia.” | 0.93 | phenotype_alias_lexicon_v2 |