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PAH and spinal muscular atrophy are reported together in 1 article.
Gene
PAH
- HGNC
- HGNC:8582
14articles
14mentions
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 60Unveiling 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 | PAH | “PKU, resulting from mutations in the phenylalanine hydroxylase (PAH) gene, exhibits geographical variability and impacts intellectual abilities.” | 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 | 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 | phenylketonuria | “Unveiling the genetic tapestry: Rare disease genomics of spinal muscular atrophy and phenylketonuria proteins.” | 0.98 | phenotype_alias_lexicon_v2 |