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ATP1A3 and diabetes mellitus are reported together in 1 article.
Gene
ATP1A3
- HGNC
- HGNC:801
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Diabetes mellitus
2,156articles
2,156mentions
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 60Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.
PMID 39024300 | PMCID PMC11257271 | DOI 10.1371/journal.pone.0307454 · PloS one · 2024 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATP1A3 | “Other mutations included SZT2, ROGDI, PRF1, ATP1A3, and SHANK3.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Ultra-rare and rare diseases cumulatively acquire a prevalence equivalent to type 2 diabetes with 80% being genetic in origin and more prevalent among high consanguinity communities including Saudi Arabia.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | SCN1A | “SCN1A mutation was reported among 19 patients.” | 0.98 | hgnc_dict_v1 |
| gene | SZT2 | “Other mutations included SZT2, ROGDI, PRF1, ATP1A3, and SHANK3.” | 0.98 | hgnc_dict_v1 |