HACE1
HGNC:21033 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
1Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in HACE1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to HACE1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.R664* | p.R664* | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |