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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.
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NOD2 and congenital cataract are reported together in 1 article.
Gene
NOD2
- HGNC
- HGNC:5331
13articles
13mentions
3variants with confirmed gene link
Most co-reported phenotypes (articles)
Crohn disease 5inflammatory bowel disease 4congenital cataract 1hepatitis B 1hepatocellular carcinoma 1ulcerative colitis 1
Reported variants (articles · ClinVar status)
Phenotype
Congenital cataract
165articles
165mentions
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 60Manifestation of Panuveitis after Intraocular Surgery in a Child with Blau Syndrome.
PMID 35125805 | PMCID PMC8763097 | DOI 10.4103/meajo.meajo_15_21 · Middle East African journal of ophthalmology · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NOD2 | “Genetic testing revealed a mutation in NOD2 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “A 10-year-old boy presented to the outpatient clinic with retinal detachment in the left eye after 6 years following early-onset cataract surgery.” | 0.93 | phenotype_alias_lexicon_v2 |