Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
ARSB and lysosomal storage disease are reported together in 2 articles.
Gene
ARSB
- HGNC
- HGNC:714
2articles
2mentions
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 60The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
PMID 28914427 | PMCID PMC5752655 | DOI 10.1007/s12687-017-0329-1 · Journal of community genetics · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ARSB | “So far, more than 150 mutations have been reported in the ARSB gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Mucopolysaccharidosis (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase or arylsulfatase B.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | mucopolysaccharidosis | “The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Eastern Province | “The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia. The aim of our study is to determine the genotypes and phenotypes of MPS VI among the Saudi population at the Eastern Province of Saudi Arabia. A total of 18 patients from 6 unrelated consanguineous families (first-cousin parents) were diagnosed with MPS VI during the defined 33 years.” | 0.95 | saudi_context_rules_v1 |
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
PMID 30118150 | PMCID PMC6282714 | DOI 10.1002/humu.23613 · Human mutation · 2018 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ARSB | “Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | mucopolysaccharidosis | “Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.” | 0.98 | phenotype_alias_lexicon_v2 |