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
LRP5 and osteogenesis imperfecta are reported together in 1 article.
Gene
LRP5
- HGNC
- HGNC:6697
6articles
6mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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 60Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.
PMID 34091789 | DOI 10.1007/s11657-021-00943-4 · Archives of osteoporosis · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LRP5 | “In children without extra-skeletal features, 14 of 70 (20%) had pathogenic variants, of which 7 were variants in type 1 collagen, and the remaining 7 variants were associated with osteoblast function or signaling (PLS3, SP7, LRP5).” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “UNLABELLED: We assessed the diagnostic utility of genetic panel testing to detect pathogenic variants associated with osteogenesis imperfecta in children presenting with multiple fractures.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL1A1 | “In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.” | 0.98 | hgnc_dict_v1 |