COG6
HGNC:18621 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
1Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in COG6 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| inborn error of metabolism | HP:0001939 | 1 | 1 |
| Gaucher disease | — | 1 | 1 |
| Niemann-Pick disease | — | 1 | 1 |
Linked variants
Variants normalized to COG6| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1167-24A>G | c.1167-24A>G | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
Supporting publications
3 records- 2018Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.JIMD reportsPubMed ↗
- 2014Variable phenotypic expression of COG6 mutations.Journal of medical geneticsPubMed ↗
- 2013A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.Journal of medical geneticsPubMed ↗