# | Gene | Abstracts | Lvl | Category | Notes |
---|
# | Gene | Abstracts | Lvl | Category | Notes |
---|---|---|---|---|---|
1 | NOD2 | 751 | 9.9 | Experimental evidence of variant | Mutations in CARD15 have recently been found in patients with Crohn disease (CD). 11875755 |
2 | TNF | 156 | 9.9 | Experimental evidence of variant | "128 CD subjects and 103 ethnically matched healthy controls were genotyped with time-of-flight mass spectrometry for the following five single nucleotide polymorphisms (SNPs) in the 5' flanking region of TNF-alpha gene: -1031 (T-->C), -863 (C-->A), -857 (C-->T), -308 (G-->A), and -238 (G-->A). 15620462" |
3 | IL23R | 148 | 9.9 | Experimental evidence of variant | "We confirmed the findings that the IL-23 receptor gene coding variant allele R381Q appears to decrease susceptibility to CD in an Israeli Jewish population. 18030204 (seems to be related but no evidence of mutation...) We found that the IL23R gene variants, rs10889677 C/A and rs2201841 T/C appear to increase susceptibility to Crohn's disease. 19103559" |
4 | ATG16L1 | 128 | 9.9 | Experimental evidence of variant | We found a genetic interaction between reference SNP (rs)2241880 (ATG16L1) (...) in CD. 24247223 |
5 | TLR4 | 88 | 9.9 | Experimental evidence of variant | We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649 |
6 | IL10 | 86 | 9.9 | Experimental evidence of variant | "DNA sequencing revealed a G --> A point mutation in exon 1 at base position 43 in one sib-pair, both affected with CD. It was also found in 2 of their healthy siblings, but not in 75 unrelated healthy controls.12825869." |
7 | SLC22A4 | 73 | 9.9 | Experimental evidence of variant | "individuals with Crohn disease, but the pathogenic lesion in the region has not yet been identified. We report here that two variants in the organic cation transporter cluster at 5q31 (a missense substitution in SLC22A4. 15107849." |
8 | IRGM | 60 | 9.9 | Experimental evidence of variant | We found a genetic interaction between reference SNP (rs)2241880 (ATG16L1) and rs10065172 (IRGM) in CD. 24247223 |
9 | IBD5 | 54 | 9.9 | Other evidences of genetic alterations | "IBD5 is a locus, not a gene (obviously, many genes on this locus are mutated for IBDs)" |
10 | SLC22A5 | 50 | 9.9 | Experimental evidence of variant | G-->C transversion in the SLC22A5 promoter) form a haplotype associated with susceptibility to Crohn disease. 15107849. |