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COL18A1 and epilepsy are reported together in 2 articles.
Gene
COL18A1
- HGNC
- HGNC:2195
6articles
6mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Epilepsy
- HPO
- HP:0001250
2,084articles
2,084mentions
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 60Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
PMID 38600369 | PMCID PMC11006671 | DOI 10.1038/s41598-024-59163-8 · Scientific reports · 2024 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL18A1 | “Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “39.5%; p-value = 0.014) and seizures than others (45% vs.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | MPL | “Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene.” | 0.98 | hgnc_dict_v1 |
| gene | PDHA1 | “Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene.” | 0.98 | hgnc_dict_v1 |
The 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 | epilepsy | “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 | 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 |