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
ANTXR2 and lysosomal storage disease are reported together in 1 article.
Gene
ANTXR2
- HGNC
- HGNC:21732
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
1 records shown · first 60Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
PMID 31455396 | PMCID PMC6712857 | DOI 10.1186/s13023-019-1183-5 · Orphanet journal of rare diseases · 2019 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ANTXR2 | “BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits.” | 0.98 | hgnc_dict_v1 |
| phenotype | lysosomal storage disease | “HFS shows some clinical overlap to Farber disease (FD), a recessive lysosomal storage disorder.” | 0.93 | phenotype_alias_lexicon_v2 |