IMPDH1
HGNC:6052 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
0Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in IMPDH1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Leber congenital amaurosis | — | 1 | 1 |
Linked variants
Variants normalized to IMPDH1| 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 |
|---|---|---|---|
| Saudi Arabia | — | 37 | 1 |
Supporting publications
1 records- 2009Mutation survey of known LCA genes and loci in the Saudi Arabian population.Investigative ophthalmology & visual science1 mentions