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GALNS and lysosomal storage disease are reported together in 2 articles.
Gene
GALNS
- HGNC
- HGNC:4122
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Lysosomal storage disease
- HPO
- HP:0003541
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.
Publications
2 records shown · first 60Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
PMID 34387910 | PMCID PMC9291100 | DOI 10.1002/humu.24270 · Human mutation · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GALNS | “Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | mucopolysaccharidosis | “Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
PMID 24726177 | PMCID PMC4203673 | DOI 10.1016/j.ymgme.2014.03.004 · Molecular genetics and metabolism · 2014 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GALNS | “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | mucopolysaccharidosis | “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.” | 0.98 | phenotype_alias_lexicon_v2 |