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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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COL18A1 and developmental delay are reported together in 1 article.
Gene
COL18A1
- HGNC
- HGNC:2195
6articles
6mentions
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 60The distinct ophthalmic phenotype of Knobloch syndrome in children.
PMID 22399687 | DOI 10.1136/bjophthalmol-2011-301396 · The British journal of ophthalmology · 2012 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL18A1 | “METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Additional features included developmental delay (two), epilepsy (one) and heterotopic grey matter in the lateral ventricles (one).” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | ADAMTS18 | “METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or ADAMTS18.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Additional features included developmental delay (two), epilepsy (one) and heterotopic grey matter in the lateral ventricles (one).” | 0.98 | phenotype_alias_lexicon_v2 |