Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
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 60Heterozygous WNT1 variant causing a variable bone phenotype.
PMID 30246918 | PMCID PMC6289778 | DOI 10.1002/ajmg.a.40347 · American journal of medical genetics. Part A · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | osteogenesis imperfecta | “Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Trp351Arg | “1051 > C; p.Trp351Arg) was identified in the proband and segregated with a bone phenotype in three additional family members, consistent with autosomal dominant inheritance.” | 0.95 | hgvs_regex_v1 |
| gene | WNT1 | “Heterozygous WNT1 variant causing a variable bone phenotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Though smaller than the typical (1.5 Mb) 22q11.2 duplication, the duplication in the proband may be responsible for additional nonosseous aspects of his phenotype (hypotonia, developmental delay, small genitalia, strabismus, and depression in preadolescence).” | 0.98 | phenotype_alias_lexicon_v2 |