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
COL18A1 and congenital cataract are reported together in 1 article.
Gene
COL18A1
- HGNC
- HGNC:2195
6articles
6mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.
PMID 41899338 | PMCID PMC13026777 | DOI 10.3390/jcm15062420 · Journal of clinical medicine · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL18A1 | “Two novel variants were identified in the Collagen Type XVIII Alpha 1 Chain (COL18A1) and the RAB3 GTPase-activating protein catalytic subunit 2 (RAB3GAP2) genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | RAB3GAP2 | “Two novel variants were identified in the Collagen Type XVIII Alpha 1 Chain (COL18A1) and the RAB3 GTPase-activating protein catalytic subunit 2 (RAB3GAP2) genes.” | 0.98 | hgnc_dict_v1 |
| gene | CRYBB1 | “Considerable phenotypic variability was observed, even among patients with the same mutation, particularly those with the recurrent CRYBB1 c.171del (p.Asn58fs) mutation.” | 0.98 | hgnc_dict_v1 |