CTSA
HGNC:9251 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
2Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in CTSA publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| cardiomyopathy | HP:0001638 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| stroke | — | 1 | 1 |
| colorectal cancer | — | 1 | 1 |
Linked variants
Variants normalized to CTSA| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.607C>A | c.607C>A | 1 | 1 |
| p.Pro203Thr | p.Pro203Thr | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 19 | 1 |
| Not specified | — | 1 | 1 |
| Not specified | — | 44 | 1 |
| Not specified | — | 146 | 1 |
Supporting publications
5 records- 2025Galactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.CureusPubMed ↗
- 2024Predictive analytics of complex healthcare systems using deep learning based disease diagnosis model.Scientific reportsPubMed ↗
- 2022Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.JIMD reportsPubMed ↗
- 2019Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).Acta neurologica BelgicaPubMed ↗
- 2018Molecular autopsy in maternal-fetal medicine.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗