SORL1
HGNC:11185 · SaudiVarKB evidence summary derived from retained literature mentions.
4Gene mentions
4Publications
7Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in SORL1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Alzheimer disease | — | 4 | 4 |
| Parkinson disease | — | 1 | 1 |
Linked variants
Variants normalized to SORL1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Val297Met | p.Val297Met | 1 | 1 |
| p.Arg1084Cys | p.Arg1084Cys | 1 | 1 |
| p.Asp1100Asn | p.Asp1100Asn | 1 | 1 |
| p.Pro1213Ser | p.Pro1213Ser | 1 | 1 |
| p.Glu380Lys | p.Glu380Lys | 1 | 1 |
| G1135T | — | 1 | 1 |
| p.G379W | p.G379W | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 117 | 1 |
Supporting publications
4 records- 2024Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease.Briefings in bioinformaticsPubMed ↗
- 2021Molecular Genetics of Early- and Late-Onset Alzheimer's Disease.Current gene therapyPubMed ↗
- 2021SORL1 mutation in a Greek family with Parkinson's disease and dementia.Annals of clinical and translational neurologyPubMed ↗
- 2019Genetic Study of Alzheimer's Disease in Saudi Population.Journal of Alzheimer's disease : JADPubMed ↗