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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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CNGA3 and retinal dystrophy are reported together in 1 article.
Gene
CNGA3
- HGNC
- HGNC:2150
6articles
6mentions
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
1 records shown · first 60PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
PMID 31725702 | DOI 10.1097/IAE.0000000000002675 · Retina (Philadelphia, Pa.) · 2020 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CNGA3 | “The most frequently mutated genes (and number of probands) were ABCA4 (14), KCNV2 (8), CRB1 (6), and CNGA3 (5).” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | ABCA4 | “The most frequently mutated genes (and number of probands) were ABCA4 (14), KCNV2 (8), CRB1 (6), and CNGA3 (5).” | 0.98 | hgnc_dict_v1 |
| gene | KCNV2 | “The most frequently mutated genes (and number of probands) were ABCA4 (14), KCNV2 (8), CRB1 (6), and CNGA3 (5).” | 0.98 | hgnc_dict_v1 |