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MYO7A and retinal dystrophy are reported together in 2 articles.
Gene
MYO7A
- HGNC
- HGNC:7606
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
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
2 records shown · first 60Usher syndrome in the United Arab Emirates.
PMID 39016003 | DOI 10.1080/13816810.2024.2374866 · Ophthalmic genetics · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYO7A | “Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “PURPOSE: Usher syndrome, a common form of syndromic inherited retinal dystrophy in the Arabian Gulf, has not been molecularly defined in the United Arab Emirates.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | USH2A | “RESULTS: Ten probands (thirteen patients) were identified-seven probands (nine patients) with clinically diagnosed Usher syndrome and three additional probands (four patients) with biallelic homozygous USH2A variants.” | 0.98 | hgnc_dict_v1 |
| gene | ADGRV1 | “Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.” | 0.98 | hgnc_dict_v1 |
Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.
PMID 29942180 | PMCID PMC6010603 | DOI 10.1016/j.sjopt.2017.10.004 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYO7A | “Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “PURPOSE: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene.” | 0.95 | saudi_context_rules_v1 |