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SLC2A10 and Ehlers-Danlos syndrome are reported together in 1 article.
Gene
SLC2A10
- HGNC
- HGNC:13444
8articles
8mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Ehlers-Danlos syndrome
19articles
19mentions
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 60Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.
PMID 35302653 | DOI 10.1111/cup.14228 · Journal of cutaneous pathology · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC2A10 | “ATS is caused by pathogenic mutations in the SLC2A10 gene, which encodes for the glucose transporter, GLUT10.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “ATS patients display features that are also found in Ehlers-Danlos syndrome (EDS) patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.S81R | “This study aimed at examining the ultrastructure of skin for abnormalities that can explain the loose skin and arterial phenotypes of Arab patients with the p.S81R mutation in SLC2A10.” | 0.95 | hgvs_regex_v1 |