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
ISG15 and systemic lupus erythematosus are reported together in 2 articles.
Gene
ISG15
- HGNC
- HGNC:4053
16articles
16mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Systemic lupus erythematosus
191articles
191mentions
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 60Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.
PMID 33563058 | DOI 10.1080/14397595.2021.1886627 · Modern rheumatology · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ISG15 | “The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PNP | “The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3.” | 0.98 | hgnc_dict_v1 |
| gene | PIK3CD | “The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3.” | 0.98 | hgnc_dict_v1 |
Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis.
PMID 33742321 | DOI 10.1007/s10875-021-01019-1 · Journal of clinical immunology · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ISG15 | “Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Autosomal Recessive ISG15 Deficiency Underlies Type I Interferonopathy with Systemic Lupus Erythematosus and Inflammatory Myositis.” | 0.98 | phenotype_alias_lexicon_v2 |