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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 26854863 | DOI 10.3109/13816810.2015.1066830 · Ophthalmic genetics · 2016 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
phenotype	retinitis pigmentosa	“The same mutation has been described in unrelated patients with non-syndromic cone-rod dystrophy and other C8orf37 changes were found in individuals with retinitis pigmentosa.”	0.98	phenotype_alias_lexicon_v2
variant	p.Arg177Trp	“While no mutation was present in any of the recognized genes for BBS, we were able to identify the homozygous non-conservative mutation c.529C>T (p.Arg177Trp) in C8orf37 that segregated with the phenotype, affects an evolutionarily highly conserved residue, and is bioinformatically predicted to be pathogenic.”	0.95	hgvs_regex_v1
phenotype	Bardet-Biedl syndrome	“C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.”	0.98	phenotype_alias_lexicon_v2
phenotype	retinal dystrophy	“Primary features are early-onset retinal dystrophy that is typically rod-cone, obesity, polydactyly, renal abnormalities, hypogonadism, and learning difficulties, but most patients do not present with the full clinical picture.”	0.98	phenotype_alias_lexicon_v2