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CYP51A1 and Leber congenital amaurosis are reported together in 1 article.
Gene
CYP51A1
- HGNC
- HGNC:2649
6articles
6mentions
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 60Gastric mucosal differentially expressed genes after bariatric surgery: Effects on sterol-related pathways.
PMID 40609801 | DOI 10.1016/j.jsbmb.2025.106824 · The Journal of steroid biochemistry and molecular biology · 2025 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP51A1 | “SCD, INSIG1, CYP51A1, and LDLR have strong protein-protein interactions.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Importantly, associations of LDLR, KCNJ13, and PMP22 with Familial hypercholesterolemia, Hyperlipoproteinemia, Charcot-marie-tooth disease type 1 and 4, and Leber congenital amaurosis were discovered.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | INSIG1 | “SCD, INSIG1, CYP51A1, and LDLR have strong protein-protein interactions.” | 0.98 | hgnc_dict_v1 |
| gene | LDLR | “SCD, INSIG1, CYP51A1, and LDLR have strong protein-protein interactions.” | 0.98 | hgnc_dict_v1 |