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FKBP10 and osteogenesis imperfecta are reported together in 2 articles.
Gene
FKBP10
- HGNC
- HGNC:18169
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Osteogenesis imperfecta
27articles
27mentions
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 60Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
PMID 26538303 | DOI 10.1038/jhg.2015.129 · Journal of human genetics · 2016 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FKBP10 | “Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families. Here we present three consanguineous families of Pakistani origin segregating OI in an autosomal-recessive pattern.” | 0.80 | saudi_context_rules_v1 |
| variant | c.1490G>A | “Sequencing the FKBP10 gene revealed a homozygous novel nonsense variant (c.1490G>A, p.Trp497*) in the family A and two previously reported variants, including a missense (c.344G>A, p.Arg115Gln), in the family B and duplication of a nucleotide C (c.831dupC, p.Gly278ArgfsX295) in the family C.” | 0.95 | hgvs_regex_v1 |
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
PMID 21567934 | DOI 10.1002/ajmg.a.34025 · American journal of medical genetics. Part A · 2011 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FKBP10 | “Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family.” | 0.95 | saudi_context_rules_v1 |