SLC4A4
HGNC:11030 · SaudiVarKB evidence summary derived from retained literature mentions.
5Gene mentions
5Publications
0Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in SLC4A4 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 1 | 1 |
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
| retinal dystrophy | HP:0000556 | 1 | 1 |
| primary congenital glaucoma | — | 1 | 1 |
Linked variants
Variants normalized to SLC4A4| 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 | — | — | 1 |
| Not specified | — | 159 | 1 |
| Not specified | — | 34 | 1 |
| Not specified | — | 193 | 1 |
Supporting publications
5 records- 2023Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.Genome medicinePubMed ↗
- 2022Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts.Human heredityPubMed ↗
- 2019Congenital glaucoma and CYP1B1: an old story revisited.Human geneticsPubMed ↗
- 2018Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.Ophthalmic geneticsPubMed ↗
- 2017A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.Genome biologyPubMed ↗