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MYO7A and Leber congenital amaurosis are reported together in 1 article.
Gene
MYO7A
- HGNC
- HGNC:7606
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 60Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
PMID 21901789 | PMCID PMC3943164 | DOI 10.1002/humu.21587 · Human mutation · 2011 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYO7A | “Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ALMS1 | “Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.” | 0.98 | hgnc_dict_v1 |
| gene | IQCB1 | “Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.” | 0.98 | hgnc_dict_v1 |