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CTNS and lysosomal storage disease are reported together in 3 articles.

Gene

CTNS

6articles

6mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

50articles

50mentions

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.

3 records shown · first 60

PMID 42298212 | DOI 10.1038/s41581-026-01089-7 · Nature reviews. Nephrology · 2026 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CTNS	“Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in CTNS, which encodes cystinosin, a H+/cystine symporter that mediates cystine efflux from lysosomes.”	0.98	hgnc_dict_v1
phenotype	lysosomal storage disease	“Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in CTNS, which encodes cystinosin, a H+/cystine symporter that mediates cystine efflux from lysosomes.”	0.93	phenotype_alias_lexicon_v2
phenotype	renal failure	“In its more severe and frequent form, infantile nephropathic cystinosis, patients present with renal Fanconi syndrome in the first 2 years of life, which progresses to chronic kidney disease.”	0.93	phenotype_alias_lexicon_v2

PMID 36674769 | PMCID PMC9864853 | DOI 10.3390/ijms24021253 · International journal of molecular sciences · 2023 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CTNS	“Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation.”	0.98	hgnc_dict_v1
phenotype	lysosomal storage disease	“Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation.”	0.98	phenotype_alias_lexicon_v2
variant	p.Asn177Ser	“CTNS gene analysis shows the presence of a homozygous missense mutation (c.590 A > G; p.Asn177Ser), previously described in the Arab population.”	0.95	hgvs_regex_v1

PMID 38016974 | PMCID PMC10684520 | DOI 10.1038/s41598-023-47085-w · Scientific reports · 2023 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	CTNS	“Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis.”	0.98	hgnc_dict_v1
phenotype	lysosomal storage disease	“Cystinosis is a prototype lysosomal storage disorder caused by mutations in the CTNS gene, encoding the lysosomal cystine-H+ symporter cystinosin, and leading to cystine accumulation in all cells of the body.”	0.93	phenotype_alias_lexicon_v2
phenotype	renal failure	“The kidneys are the first and the most severely affected organs, presenting glomerular and proximal tubular dysfunction, progressing to end-stage kidney failure.”	0.93	phenotype_alias_lexicon_v2