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SPATA7 and retinitis pigmentosa are reported together in 1 article.
Gene
SPATA7
- HGNC
- HGNC:20423
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinitis pigmentosa
88articles
88mentions
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 60Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
PMID 19268277 | PMCID PMC2668010 | DOI 10.1016/j.ajhg.2009.02.005 · American journal of human genetics · 2009 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SPATA7 | “Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Leber congenital amaurosis | “Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060.” | 0.95 | saudi_context_rules_v1 |