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CDH16 and mucopolysaccharidosis are reported together in 1 article.
Gene
CDH16
- HGNC
- HGNC:1755
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Mucopolysaccharidosis
- HPO
- HP:0008155
37articles
37mentions
10co-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 60Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
PMID 26355662 | DOI 10.1038/gim.2015.127 · Genetics in medicine : official journal of the American College of Medical Genetics · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CDH16 | “Whole-exome sequencing revealed the likely candidate as AGBL5 and CDH16, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | mucopolysaccharidosis | “We also performed exome sequencing on negative syndromic RD cases and identified a novel homozygous truncating mutation in GNS in a family with the novel combination of mucopolysaccharidosis and RD.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | AGBL5 | “Whole-exome sequencing revealed the likely candidate as AGBL5 and CDH16, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | GNS | “We also performed exome sequencing on negative syndromic RD cases and identified a novel homozygous truncating mutation in GNS in a family with the novel combination of mucopolysaccharidosis and RD.” | 0.98 | hgnc_dict_v1 |