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
LRP1 and congenital heart disease are reported together in 1 article.
Gene
LRP1
- HGNC
- HGNC:6692
8articles
8mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Alzheimer disease 3Marfan syndrome 1Parkinson disease 1congenital heart disease 1coronary artery disease 1diabetes mellitus 1epilepsy 1
Reported variants (articles · ClinVar status)
Phenotype
Congenital heart disease
363articles
363mentions
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 60Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.
PMID 36162527 | DOI 10.1016/j.gene.2022.146909 · Gene · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LRP1 | “Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “BACKGROUND: Tetralogy of Fallot (TOF) is a rare, complex congenital heart defect caused by genetic and environmental interactions that results in abnormal heart development during the early stages of pregnancy.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot. Genetic basis of TOF in Saudi populations is not yet studied. Therefore, the objective of this study is to screen for the molecular defects causing TOF in Saudi patients. METHODS: A family with non-syndromic TOF was recruited from the Western region of Saudi Arabia. Also, this variant was absent in the in-house exome sequencing data of 80 healthy Saudi individuals.” | 0.95 | saudi_context_rules_v1 |