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ATF6 and Leber congenital amaurosis are reported together in 1 article.
Gene
ATF6
- HGNC
- HGNC:791
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Leber congenital amaurosis
26articles
26mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
PMID 38468396 | DOI 10.1111/cge.14517 · Clinical genetics · 2024 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ATF6 | “Homozygous pathogenic variants were identified in known IRD genes (ATF6, CRB1, CABP4, RDH12, RIMS2, RPGRIP1, SPATA7).” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Leber congenital amaurosis (LCA) and early-onset retinal degeneration (EORD) are inherited retinal diseases (IRD) characterized by early-onset vision impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RIMS2 | “Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.” | 0.98 | hgnc_dict_v1 |
| gene | RPGRIP1 | “A potential founder variant was found in RPGRIP1.” | 0.98 | hgnc_dict_v1 |