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FKBP14 and Ehlers-Danlos syndrome are reported together in 1 article.
Gene
FKBP14
- HGNC
- HGNC:18625
1articles
1mentions
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 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 | FKBP14 | “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 |