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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
1 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 |
|---|---|---|---|---|
| phenotype | osteogenesis imperfecta | “Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Trp497* | “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 |
| gene | FKBP10 | “Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.” | 0.98 | hgnc_dict_v1 |
| 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 |