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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

Retinitis pigmentosa

88articles

88mentions

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.

1 records shown · first 60

PMID 32613137 | PMCID PMC7315105 | DOI 10.1016/j.ajoc.2020.100780 · American journal of ophthalmology case reports · 2020 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
phenotype	retinitis pigmentosa	“Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.”	0.98	phenotype_alias_lexicon_v2
variant	p.Gly868Asp	“OBSERVATIONS: Six siblings, age range 50-75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing.In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)).”	0.95	hgvs_regex_v1
gene	CNGB1	“Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants.”	0.98	hgnc_dict_v1
phenotype	retinal dystrophy	“CONCLUSIONS AND IMPORTANCE: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration.”	0.93	phenotype_alias_lexicon_v2