RNASEH2A
HGNC:18518 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in RNASEH2A publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| developmental delay | HP:0001263 | 2 | 2 |
| intellectual disability | HP:0001249 | 1 | 1 |
| epilepsy | HP:0001250 | 1 | 1 |
Linked variants
Variants normalized to RNASEH2A| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 24 | 1 |
| Saudi Arabia | — | 20 | 1 |
Supporting publications
2 records- 2024Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.Clinical and experimental rheumatologyPubMed ↗
- 2018Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.Pediatric neurologyPubMed ↗