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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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COL3A1 and intellectual disability are reported together in 1 article.

Gene

COL3A1

12articles

12mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

736articles

736mentions

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.

1 records shown · first 60

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	intellectual disability	“RESULTS: Clinical investigations determined that developmental delay, intellectual disability and seizures were manifested by most patients in early childhood.”	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