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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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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 60Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.
PMID 42074478 | PMCID PMC13115680 | DOI 10.3390/genes17040360 · Genes · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | V97G | “Results: We identified a novel homozygous missense variant, p.Val97Gly (V97G), in the PEX6 gene that co-segregated with the disease phenotype in both families.” | 0.82 | literature_variant_regex_v2 |
| gene | PEX6 | “Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.” | 0.98 | hgnc_dict_v1 |
| gene | PEX1 | “It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy.” | 0.98 | hgnc_dict_v1 |