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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
2 records shown · first 60Exploring the role of genetic variants in susceptibility to autoimmune Diseases: A molecular genetics approach.
PMID 41237580 | DOI 10.1016/j.humimm.2025.111614 · Human immunology · 2025 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | rheumatoid arthritis | “The purpose of this study is to identify key genetic variants associated with rheumatoid arthritis, systemic lupus erythematosus, multiple sclerosis, and type 1 diabetes, and to investigate how these variants interact with environmental exposures to influence risk and age of onset.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs2476601 | “Notably, the PTPN22 rs2476601 variant increased the risk by approximately 1.8 times, while the HLA-DRB1 rs3135388 variant increased the risk by around 2.1 times.” | 0.90 | hgvs_regex_v1 |
| gene | PTPN22 | “This study identifies several significant genetic variants associated with autoimmune diseases, including PTPN22, HLA-DRB1, HLA-DQA1, IRF5, IL10, and other immune-regulatory genes.” | 0.98 | hgnc_dict_v1 |
| gene | HLA-DRB1 | “This study identifies several significant genetic variants associated with autoimmune diseases, including PTPN22, HLA-DRB1, HLA-DQA1, IRF5, IL10, and other immune-regulatory genes.” | 0.98 | hgnc_dict_v1 |
Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.
PMID 34199962 | PMCID PMC8227790 | DOI 10.3390/biology10060501 · Biology · 2021 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | rheumatoid arthritis | “Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs2476601 | “The damaging effect of 23 non-synonymous SNPs on proteins using different tools suggested four SNPs, including rs2476601 in PTPN22, rs5029941 and rs2230926 in TNFAIP3, and rs34536443 in TYK2, to be the most damaging.” | 0.90 | hgvs_regex_v1 |
| gene | PTPN22 | “The damaging effect of 23 non-synonymous SNPs on proteins using different tools suggested four SNPs, including rs2476601 in PTPN22, rs5029941 and rs2230926 in TNFAIP3, and rs34536443 in TYK2, to be the most damaging.” | 0.98 | hgnc_dict_v1 |
| gene | TNFAIP3 | “The damaging effect of 23 non-synonymous SNPs on proteins using different tools suggested four SNPs, including rs2476601 in PTPN22, rs5029941 and rs2230926 in TNFAIP3, and rs34536443 in TYK2, to be the most damaging.” | 0.98 | hgnc_dict_v1 |