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SLC2A10 and hypertension are reported together in 2 articles.
Gene
SLC2A10
- HGNC
- HGNC:13444
8articles
8mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Hypertension
828articles
828mentions
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
2 records shown · first 60Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.
PMID 38987788 | PMCID PMC11234637 | DOI 10.1186/s13019-024-02905-6 · Journal of cardiothoracic surgery · 2024 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC2A10 | “BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension.” | 0.98 | phenotype_alias_lexicon_v2 |
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
PMID 18774132 | DOI 10.1016/j.atherosclerosis.2008.07.026 · Atherosclerosis · 2009 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC2A10 | “A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “We describe seven patients of two unrelated Saudi Arabian families who display tortuosity, dilatation and stenosis of arteries, pulmonary hypertension and other cardiovascular manifestations.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We describe seven patients of two unrelated Saudi Arabian families who display tortuosity, dilatation and stenosis of arteries, pulmonary hypertension and other cardiovascular manifestations.” | 0.95 | saudi_context_rules_v1 |
| variant | c.313C>T | “In the single patient of Family 1, sequencing of the candidate gene, SLC2A10, identified a novel missense c.313C>T mutation encoding a p.Arg105Cys substitution in the second extracellular domain of GLUT10.” | 0.95 | hgvs_regex_v1 |