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
ABCA7 and Alzheimer disease are reported together in 2 articles.
Gene
ABCA7
- HGNC
- HGNC:37
2articles
2mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Alzheimer disease
455articles
455mentions
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 60ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.
PMID 36007616 | PMCID PMC9513280 | DOI 10.1016/j.jbc.2022.102411 · The Journal of biological chemistry · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ABCA7 | “ATP-binding cassette protein ABCA7 deficiency impairs sphingomyelin synthesis, cognitive discrimination, and synaptic plasticity in the entorhinal cortex.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Since loss of function mutations in the ABCA7 gene exhibit strong associations with late-onset Alzheimer's disease across racial groups, we also studied the effects of ABCA7 deficiency in the mouse brain.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ABCA1 | “We previously reported that ATP-binding cassette family A protein 1 (ABCA1) deficiency in humans and mice decreases plasma SM levels.” | 0.98 | hgnc_dict_v1 |
A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.
PMID 32844072 | PMCID PMC7441036 | DOI 10.5582/irdr.2020.03033 · Intractable & rare diseases research · 2020 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ABCA7 | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | Parkinson disease | “In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Jeddah | “A novel variant c.3706C>T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9. In this study, we report a novel variant in ABCA7 in a Saudi patient with susceptibility to AD 9 and a strong family history of neurodegenerative disorders, which may be explained by the same variant. We studied a single 57-year-old female patient with typical symptoms of AD supported by MRI findings from a Saudi family with a positive history of a similar disease in multiple individuals. The case study was conducted in King Abdulaziz Medical City in Jeddah, Saudi Arabia. In this article, we reported a middle-aged Saudi woman with a novel variant in ABCA7 who had clinical features of both AD and Parkinson's disease.” | 0.95 | saudi_context_rules_v1 |