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
Phenotype
Rheumatoid arthritis
212articles
212mentions
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 60Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
PMID 11431697 | DOI 10.1038/90100 · Nature genetics · 2001 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | rheumatoid arthritis | “The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | R101H | “We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X.” | 0.82 | literature_variant_regex_v2 |
| gene | MMP2 | “Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | TIMP2 | “The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains.” | 0.98 | hgnc_dict_v1 |