CTSK
HGNC:2536 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
4Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in CTSK publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| skeletal dysplasia | — | 1 | 1 |
Linked variants
Variants normalized to CTSK| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.244-29A>G | c.244-29A>G | 1 | 1 |
| p.Trp2Ter | p.Trp2Ter | 1 | 1 |
| p.Gly180Ser | p.Gly180Ser | 1 | 1 |
| p.Ala277Val | p.Ala277Val | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 8 | 1 |
| Saudi Arabia | — | 18 | 1 |
Supporting publications
2 records- 2025Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinologyPubMed ↗
- 2021The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.American journal of medical genetics. Part APubMed ↗