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Phenotype
Crohn disease
435articles
435mentions
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 60Human intelectin-1 (ITLN1) genetic variation and intestinal expression.
PMID 34145348 | PMCID PMC8213764 | DOI 10.1038/s41598-021-92198-9 · Scientific reports · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Crohn disease | “Previous GWAS have linked SNPs in ITLN1 (also known as omentin) with susceptibility to Crohn's disease (CD); however, analysis of possible functional significance of SNPs at this locus is lacking.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | V109D | “Moreover, the missense variant V109D does not influence ITLN1 glycan binding to the glycan β-D-galactofuranose or protein-protein oligomerization.” | 0.82 | literature_variant_regex_v2 |
| gene | ITLN1 | “Human intelectin-1 (ITLN1) genetic variation and intestinal expression.” | 0.98 | hgnc_dict_v1 |
| gene | CD244 | “Using the Ensembl database, pairwise linkage disequilibrium (LD) analyses indicated that several disease-associated SNPs at the ITLN1 locus, including SNPs in CD244 and Ly9, were in LD.” | 0.98 | hgnc_dict_v1 |