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ISG15 and developmental delay are reported together in 1 article.
Gene
ISG15
- HGNC
- HGNC:4053
16articles
16mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 60Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.
PMID 38976295 | DOI 10.55563/clinexprheumatol/aa6drm · Clinical and experimental rheumatology · 2024 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ISG15 | “Moreover, 8 patients presented with rare interferonopathy conditions, including three with ISG15, 3 with ZNFX1, 1 with the SOCS1 variant, and 1 the STAT1 variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Despite these interventions, a partial response to treatment was observed, and cumulative disease damage primarily manifested as growth failure and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RNASEH2A | “Eight patients were diagnosed with Aicardi-Goutières syndrome, attributed to variants in the RNASEH2A, RNASEH2C, and IFIH1 genes.” | 0.98 | hgnc_dict_v1 |
| gene | RNASEH2C | “Eight patients were diagnosed with Aicardi-Goutières syndrome, attributed to variants in the RNASEH2A, RNASEH2C, and IFIH1 genes.” | 0.98 | hgnc_dict_v1 |