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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 60C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.
PMID 26294103 | DOI 10.1136/bjophthalmol-2015-307277 · The British journal of ophthalmology · 2015 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.436_466del | “Two had a frameshift deletion c.436_466del (p.Glu146Serfs*6).” | 0.95 | hgvs_regex_v1 |
| phenotype | obesity | “The short stature and obesity noted in the youngest girl suggest that for some patients biallelic C21orf2 mutations may result in syndromic ciliopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Cys61Tyr | “The third had a missense mutation affecting a highly conserved residue (p.Cys61Tyr) and was short (below the 3rd percentile) and obese (50th percentile for weight despite short stature).” | 0.95 | hgvs_regex_v1 |