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COL3A1 and epilepsy are reported together in 1 article.
Gene
COL3A1
- HGNC
- HGNC:2201
12articles
12mentions
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
1 records shown · first 60Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
PMID 37393059 | DOI 10.1016/j.gene.2023.147599 · Gene · 2023 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL3A1 | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | OCLN | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |
| gene | ALDH7A1 | “We identified four novel homozygous variants including nonsense andmissense variants in OCLN, ALDH7A1, IQSEC2 and COL3A1, segregating with the phenotypes in the participants of four families.” | 0.98 | hgnc_dict_v1 |