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PRDM5 and Ehlers-Danlos syndrome are reported together in 1 article.
Gene
PRDM5
- HGNC
- HGNC:9349
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.
PMID 23010198 | DOI 10.1016/j.gene.2012.09.022 · Gene · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRDM5 | “BCS-1 and BCS-2 are caused by recessive mutations in ZNF469 and PRDM5, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “This family highlights the phenotypic overlap between BCS and Ehlers-Danlos syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ZNF469 | “Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “The patients had thin velvety skin, hallux valgus, variable sensorineural hearing loss and arachnodactyly.” | 0.98 | phenotype_alias_lexicon_v2 |