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TTR and amyotrophic lateral sclerosis are reported together in 1 article.
Gene
TTR
- HGNC
- HGNC:12405
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Amyotrophic lateral sclerosis
105articles
105mentions
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 60Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia.
PMID 41907197 | PMCID PMC13022627 | DOI 10.1016/j.ensci.2026.100607 · eNeurologicalSci · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTR | “Genetic testing identified a pathogenic heterozygous variant in the TTR gene: NM_000371.4:c.424G > A (p.Val142Ile).” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Hereditary transthyretin amyloidosis mimicking ALS: First genetically proven case report from Saudi Arabia. CASE REPORT: We report the first genetically confirmed case of ATTRv mimicking amyotrophic lateral sclerosis (ALS) in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Val142Ile | “Genetic testing identified a pathogenic heterozygous variant in the TTR gene: NM_000371.4:c.424G > A (p.Val142Ile).” | 0.95 | hgvs_regex_v1 |