CBS
HGNC:1550 · SaudiVarKB evidence summary derived from retained literature mentions.
7Gene mentions
7Publications
5Linked variants
6Associated phenotypes
Associated phenotypes
Co-mentioned in CBS publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| homocystinuria | — | 3 | 3 |
| coronary artery disease | — | 2 | 2 |
| COVID-19 | — | 1 | 1 |
| stroke | — | 1 | 1 |
| inborn error of metabolism | HP:0001939 | 1 | 1 |
| SARS | — | 1 | 1 |
Linked variants
Variants normalized to CBS| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Trp323X | p.Trp323X | 1 | 1 |
| p.Arg336Cys | p.Arg336Cys | 1 | 1 |
| p.Gly153Arg | p.Gly153Arg | 1 | 1 |
| p.Thr257Met | p.Thr257Met | 1 | 1 |
| T833C | — | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 19 | 1 |
| Not specified | — | 100 | 1 |
| Saudi Arabia | — | 13 | 1 |
| Not specified | — | 504 | 1 |
Supporting publications
7 records- 2023Intermediate metabolites and molecular correlates of one‑carbon and nutrient metabolism differ in tissues from Holstein fetuses.Research in veterinary sciencePubMed ↗
- 2021Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population.Cardiovascular & hematological disorders drug targetsPubMed ↗
- 2020The Spectrum of Mutations of Homocystinuria in the MENA Region.GenesPubMed ↗
- 2020Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism.Frontiers in pharmacologyPubMed ↗
- 2017The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease.Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolismePubMed ↗
- 2016The role of melanin pathways in extremotolerance and virulence of Fonsecaea revealed by de novo assembly transcriptomics using illumina paired-end sequencing.Studies in mycologyPubMed ↗
- 2012Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.Clinical geneticsPubMed ↗