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ZNF469 and Ehlers-Danlos syndrome are reported together in 2 articles.
Gene
ZNF469
- HGNC
- HGNC:23216
5articles
5mentions
1variants 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
2 records shown · first 60Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
PMID 27023906 | DOI 10.1007/s00439-016-1660-z · Human genetics · 2016 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ZNF469 | “Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “Ehlers-Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | B3GALT6 | “Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | GORAB | “Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes.” | 0.98 | hgnc_dict_v1 |
Identification 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 | ZNF469 | “Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.” | 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 | PRDM5 | “BCS-1 and BCS-2 are caused by recessive mutations in ZNF469 and PRDM5, respectively.” | 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 |