Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
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 60Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
PMID 31908403 | PMCID PMC6937218 · Molecular vision · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “CONCLUSIONS: Further prospective study in larger samples is needed to establish whether there is progressive retinal degeneration in TRPM1-associated CSNB.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.2394delC | “We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified.” | 0.95 | hgvs_regex_v1 |
| gene | TRPM1 | “A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings.” | 0.98 | hgnc_dict_v1 |
| variant | c.1394T>A | “In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation.” | 0.95 | hgvs_regex_v1 |