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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 60Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.
PMID 39304031 | DOI 10.1016/j.jaapos.2024.104007 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1525-1G>A | “All carried the same homozygous missense IFT140 mutation (c.1990G>A; p.Glu664Lys) except for a single family, which included 4 affected subjects, 3 of whom were aborted fetuses, with compound heterozygous pathogenic IFT140 variants (c.1525-1G>A and c.1990G>A; p.Glu664Lys).” | 0.95 | hgvs_regex_v1 |
| gene | IFT140 | “Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “All affected individuals had skeletal abnormalities, and neurological abnormalities were common, but there was no evidence of chronic renal failure.” | 0.98 | phenotype_alias_lexicon_v2 |