| # | 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. |
| 11 | TNFSF15 | 45 | 9.9 | Experimental evidence of variant | This effect of -358T/C on the transcriptional activity in stimulated T cells may confer susceptibility to CD. 19124533 |
| 12 | NOD1 | 41 | 9.9 | Experimental evidence of variant | "Taken from the paper: three common CD associated NOD2 variants (Arg702Trp, Gly908Arg and the fsinsC1007). 15790594." |
| 13 | IL6 | 41 | 0.3 | Experimental evidence of variant | Males with IL-6-174GG genotype are prone to develop CD at a younger age than males with the IL-6-174G --> C genotype. 19934771. |
| 14 | TPMT | 41 | 9.9 | Treatment Response | "Thiopurine s-methyltransferase enzyme is responsible for the metabolism of immunosuppressant thiopurines, which are used in inflammatory bowel diseases, acute lymphoblastic leukemia and autoimmune diseases. 22275734." |
| 15 | IL1B | 40 | 3.9 | Experimental evidence of variant | These results suggest that IL1B gene polymorphisms participate in determining the course and severity of inflammatory bowel disease and contribute to explain the heterogeneity of these diseases. In the CD group a significant association (P = 0.009) was found in this pair of genes. Homozygotes for allele 1 at position +3953 were more often present (69% vs 31%) in the subgroup of patients carrying at least one copy of allele 2 at position -511. 10380697. |
| 16 | STAT3 | 37 | 9.9 | Experimental evidence of variant | "In addition, novel loci were identified in TNFSF8 (rs3181374, OR=1.53, p=1.03_10(-14)), BTNL2 (rs28362680, OR=1.47, p=9.67_10(-11)), HLA-DQA2 (rs3208181, OR=1.36, p=4.66_10(-6)), STAT3 (rs1053004, OR=1.29, p=2.07_10(-5)). 25731871" |
| 17 | NFKB1 | 36 | 9.9 | Experimental evidence of variant | "The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD. 24971461." |
| 18 | CRP | 35 | 1.6 | Annotation error | "CRP is a protein, not a gene (C-reactive prontein). Anyway, the levels of this protein, seem to be related with the disease." |
| 19 | DLG5 | 35 | 9.9 | Experimental evidence of variant | We found a significant difference in association of the 113A DLG5 variant with Crohn disease. 15107852. |
| 20 | IL12B | 34 | 9.9 | Experimental evidence of variant | Our genetic association study revealed that the polymorphisms of IL12B rs6887695 were associated with both CD. 25761185. |
| 21 | KRAS | 33 | 9.9 | Experimental evidence of variant | "In addition, IDH1-mutated intestinal adenocarcinoma is associated with a characteristic low-grade tubuloglandular histology and often harbors concurrent KRAS mutations. Identification of patients with IDH1-mutated intestinal adenocarcinoma may become clinically important as new therapies emerge that target tumors that harbor IDH mutations. 25029120" |
| 22 | ABCB1 | 33 | 9.9 | Experimental evidence of variant | "MDR1 polymorphisms in a Slovenian population. Haplotypes significantly associated with diseases were defined by single-nucleotide polymorphisms (SNPs) in exons 12 (1236 C>A), 21(A893S), and 26 (3435 C>T). In addition, two intronic SNPs in LD with the disease haplotype, one in intron 13 (rs2235035) and another in intron 16 (rs1922242), were significantly associated with refractory Crohn. 15505619." |
| 23 | TP53 | 33 | 0 | Biologically related but no evidence of mutation | "which, for the first time, links sequence variation of the p53/mdm2 network to CD. 20110711. If not, related but not mutated." |
| 24 | PTPN22 | 31 | 9.9 | Experimental evidence of variant | "Our data suggest that two autoimmunity-associated polymorphisms of the PTPN22 gene are differentially associated with CD and UC. The R263Q polymorphism only associated with UC, whereas the R620W was significantly associated with only CD. 21287672." |
| 25 | IL17A | 30 | 9.9 | Biologically related but no evidence of mutation | The results provide insights into the genetic and epigenetic interactions in the IL-23R/IL-17 axis that are associated with elevated expression of IL-17 and IBD pathogenesis. |
| 26 | IL1RN | 29 | 9.9 | Experimental evidence of variant | "Significant associations were found between Crohn's disease (CD) and minor NOD2 variants, as well as TLR4 299Gly, TNF-_ G-308A, IL-6 G-174C and IL-1RN VNTR A2 variants. 26316104" |
| 27 | IL23A | 28 | 9.9 | Experimental evidence of variant | "The rare allele of a non-synonymous interleukin 23 receptor (IL23R) single nucleotide polymorphism (SNP) rs11209026 (p.Arg381Gln) confers strong protection against Crohn disease (CD) and psoriasis. Other IL23R variants also exhibit association with CD, genetically independent of rs11209026. 18647855." |
| 28 | CD14 | 28 | 9.9 | Experimental evidence of variant | """A polymorphism in the CD14 gene is associated with Crohn disease"" .T allele and TT genotype frequencies were found increased in CD patients compared to controls. 12940436/11843056." |
| 29 | CXCL8 | 27 | 1.7 | Genetic evidence in a related disease | "Our data support a significant but modest association between the AAT haplotype of IL-8 gene and UC (OR = 1.441, 95%CI 1.007 - 2.063)." |
| 30 | TLR2 | 26 | 9.9 | Treatment Response | "Nineteen functional polymorphisms that alter the NF_B-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-_ signaling (TNFA (TNF-_) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NF_B (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD. ASSOCIATED WITH UC. the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC." |
| 31 | HLA-DRB1 | 25 | 9.9 | Other evidences of genetic alterations | These results indicated that both of HLA-DRB1 and TNFA promoter polymorphisms contribute to the susceptibility to CD in an independent manner. 15626888. |
| 32 | PTPN2 | 24 | 9.9 | Experimental evidence of variant | "The loci associated in non-smoking, but not in smoking, CD patients were IL23R (rs7517847), 5p13.1 (rs9292777), IRGM (rs13361189 and rs4958847), IL12B (rs6887695), and CCNY (rs3936503). PTPN2 (rs2542151). 19953089." |
| 33 | NELFCD:Th1(22) | 22 | 4.9 | Annotation error | TH means t helper (lymphocytes) |
| 34 | BRAF | 22 | 6.7 | Biologically related but no evidence of mutation | Mutations are very common in related diseases. |
| 35 | VDR | 22 | 9.9 | Other evidences of genetic alterations | "Vitamin D receptor (BsmI, ApaI, and TaqI) mutations and lower 25(OH)D levels are associated with CD in Chinese patients. Moreover, VDR (FokI, ApaI, and TaqI) mutations and vitamin D deficiency may have a combined impact on CD. 26513524" |
| 36 | IL10RA | 20 | 9.9 | Experimental evidence of variant | "2 novel mutations affecting the IL10RA gene (c.T192G, p.Tyr64 and c.T133G, p.Trp45Gly). 25373860." |
| 37 | MEFV | 20 | 9.9 | Experimental evidence of variant | "MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population. 20306331" |
| 38 | NLRP3 | 19 | 9.9 | Experimental evidence of variant | We suggest a role for combined polymorphisms in CARD8 and NALP3 in the development of CD in men. 19319132. |
| 39 | LRRK2 | 19 | 9.9 | GWAS evidence within gene | "We confirmed the association of 17 reported common susceptibility loci. Moreover, we found associations at eight additional loci: GCKR, ATG16L1, CDKAL1, ZNF365, LRRK2-MUC19, C13orf31, PTPN2, and SBNO2. 21351207." |
| 40 | F5:factor V Leiden(19) | 19 | 9.9 | Biologically related but no evidence of mutation | The presence of genetic mutations that predispose to hypercoagulable states does not appear to correlate with the prevalence of IBD or to thromboembolic events in patients with IBD. There was no statistical difference between the proportions of the mutated allele frequency in our study patients and the general population. 12454577. |
| 41 | MTHFR | 19 | 9.1 | Genetic evidence in a related disease | "There is an association between the thermolabile MTHFR C677T variant and IBD. 10446107. 5 The association of the C677T variant with ulcerative colitis and Crohn_s disease, if confirmed, may be a marker for a common genetic association between Crohn_s disease and ulcerative colitis on chromosome 1." |
| 42 | CTLA4 | 18 | 8.3 | Genetic evidence in a related disease | The A+49G variant of the CTLA4 gene was not an independent determinant to inflammatory bowel disease 21519805 |
| 43 | IL4 | 18 | 1 | Experimental evidence of variant | "The interleukin-4 gene-associated SNP rs2243250 was strongly associated with CDI in our IBD population. This SNP may allow for the identification of IBD patients at greater risk for CDI. Our study, comprising 211 patients with Crohn's disease, 147 patients with ulcerative colitis and 446 healthy controls revealed significant association of Crohn's disease with the -590 T allele of the interleukin-4 gene (P = 0.03). 11528525" |
| 44 | INSC | 18 | 9.9 | Annotation error | "insC is not a gene ""insertion C"" (cytosine)." |
| 45 | NKX2-3 | 17 | 9.9 | Experimental evidence of variant | We confirmed the association of SNP rs10883365 located in the 5' flanking region of NKX2-3 with Japanese UC and colonic CD and determined the risk haplotype (haplotype B) for UC. 21514341 |
| 46 | MLH1 | 17 | 9.4 | Other evidences of genetic alterations | Comparisons of MLH1 exon 15/D3S1611 haplotypes of Crohn's colitis and patients with ulcerative colitis were significant (p = 0.037). |
| 47 | ICAM1 | 16 | 2.2 | Experimental evidence of variant | "Because the codon 241 polymorphism is in a functionally important domain III of ICAM-1, we may have identified an actual responsible genetic variation for genetically heterogeneous subsets of both UC and CD. 7615193." |
| 48 | IFNG | 16 | 0 | Experimental evidence of variant | "IFNG rs1861494 T allele carriage in patients with IBD was associated with enhanced secretion of IFN-_. T allele carriage was associated in UC with high levels of antineutrophil cytoplasmic autoantibodies and faster progression to colectomy. In CD, it was associated with complicated disease involving a stricturing/penetrating phenotype. Likewise, IFNG rs1861494 displayed genotype-specific modulation of DNA methylation and transcription factor complex formation. 25171510." |
| 49 | TLR9 | 16 | 9.9 | Experimental evidence of variant | "significant correlation were only found in the Crohn's disease subgroup (...) The present study suggested that the TLR9 -1237T/C polymorphism might act as a risk factor in the development of IBDs, particularly in Caucasians. 26632396." |
| 50 | CARD8 | 14 | 9.9 | Unrelated | Talking about colorectal cancer. |
| 51 | XIAP | 14 | 9.8 | Experimental evidence of variant | "Some authors stablish a biological relation but no variants are defined. Only one abstract talk about mutations ""Subsequent analysis identified a novel, hemizygous missense mutation in the X-linked inhibitor of apoptosis gene, substituting a tyrosine for a highly conserved and functionally important cysteine. X-linked inhibitor of apoptosis was not previously associated with Crohn disease"". 21173700." |
| 52 | IL2 | 14 | 0 | Genetic evidence in a related disease | "Thus the gene encoding IL-2 may contribute to UC susceptibility, 19201773" |
| 53 | JAK2 | 14 | 4.9 | Experimental evidence of variant | Data on genetic interaction reveals that the above JAK2 and STAT3 risk alleles contribute to CD susceptibility in combination with each other (OR: 2.218; 95% CI: 1.097-4.487; P = 0.024). 22269120_ |
| 54 | STAT4 | 14 | 9.9 | GWAS evidence within gene | "The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin (for T versus G, P = 1.2 x 10(-6), odds ratio [OR] 1.59, 95% confidence interval [95% CI] 1.31-1.92), and the association was described for the first time in both clinical forms of inflammatory bowel disease, Crohn's disease and ulcerative colitis. 18759272." |
| 55 | TNFRSF1A | 14 | 8 | Experimental evidence of variant | These data constitute the first report of an association of TNFRSF1A and TNFRSF1B polymorphisms with CD in a Caucasian population and address the role of TNFR mutations in determining clinical heterogeneity in CD. 15842589. |
| 56 | IL18 | 12 | 4.2 | Experimental evidence of variant | "Furthermore, genetically determined high activity of the IL-23/IL-17 pathway was associated with increased risk of CD and UC. Overall, our results support that genetically determined high inflammatory response was associated with increased risk of both CD and UC. 26698117" |
| 57 | MBL2 | 12 | 9.4 | Other evidences of genetic alterations | The results show that the MBL2 variant rs5030737 at codon 52 was associated with a low level of mannose-binding lectin and impaired mannose-binding lectin-mannose-associated serine protease (MBL-MASP) functional activity in Crohn's disease patients. |
| 58 | MSH2 | 12 | 6.4 | Unrelated | "HNPCC is a disease, not a gene-->Annotation Error! MSH-2 (MutS Homolog): Talking about people with different pathologies." |
| 59 | SLC11A1 | 12 | 9.9 | Experimental evidence of variant | "For the first time, a strong association was observed between polymorphisms at NRAMP1 locus 823C/T and CD. 17131479." |
| 60 | RIPK2 | 12 | 9.9 | Other evidences of genetic alterations | rs7015630 |
| 61 | FCGR3A | 11 | 3.1 | Treatment Response | "Crohn's disease patients with FCGR3A-158 V/V genotype have a better biological and, possibly, clinical response to infliximab." |
| 62 | IL37:interleukin-23(8) | 11 | 9.9 | Annotation error | Associations presented in this study give potentially important insight into the roles of specific Interleukin-23 receptor polymorphisms in Crohn's disease pathogenesis in the Croatian population. 24611330. |
| 63 | HLA-B | 11 | 2.1 | Other evidences of genetic alterations | "Radiological evidence of sacroiliitis with or without ankylosing spondylitis was found in 23 patients (23%), of whom only three were HLA-B27 positive. In contrast, 78% of patients with sacroiliitis carried a CARD15 variant v 48% of those without sacroiliitis (p = 0.01; odds ratio 3.8 (95% confidence interval, 1.3 to 11.5)). 15308523" |
| 64 | NCF4 | 11 | 9.9 | Experimental evidence of variant | "Our study has demonstrated that IRGM and NCF4 are ileal-specific CD susceptibility factors in New Zealand Caucasians. (NCF4), rs13361189 and rs4958847. 18580884." |
| 65 | CD4 | 11 | 9.9 | Annotation error | Annotation Error -->CD4 is a cell type. |
| 66 | CCR5 | 10 | 3.2 | Experimental evidence of variant | "In conclusion, the present study supports the involvement of chemokine receptor (CCR2 and CCR5) polymorphisms in activity degree of the IBD disease in Tunisian patients. 23461143 For the first time, an association between two CARD15 polymorphisms and specific sarcoidosis phenotypes has been demonstrated, as well as an additive effect of possessing CARD15 2104T and CCR5 HHC haplotype. 19679608." |
| 67 | LACC1 | 10 | 9.9 | Other evidences of genetic alterations | "The analysis of 459K single nucleotide polymorphisms was completed in 40 hrs using parallel computing, and revealed a joint association predisposing to CD (P-value = 2.763 _ 10(-19)). Further analysis of the newly discovered association suggested that 13 genes, such as ATG16L1 and LACC1, may play an important role in CD. 23135745." |
| 68 | FUT2 | 10 | 9.9 | Experimental evidence of variant | whereas an association was observed between the FUT2 polymorphism and Crohn's disease susceptibility. 24268527. |
| 69 | MST1 | 10 | 9.9 | Experimental evidence of variant | "In some cases, these SNPs are in well-established disease-related proteins, such as MST1 (macrophage stimulating 1) for Crohn's disease. 25937569. Therefore, the gain of function observed with rs3197999 in MST1 might provide a cellular mechanism for the consistent association of this polymorphism with an increased risk for IBD and PSC. 22237417." |
| 70 | IL22:IL-22(11) | 10 | 7.1 | Biologically related but no evidence of mutation | |
| 71 | FOXP3 | 10 | 2 | Biologically related but no evidence of mutation | |
| 72 | CARD9 | 10 | 9.9 | Experimental evidence of variant | "A novel rare SNV, rs200735402 in CARD9, was shown to have a protective effect (OR=0.09, p=5.28_10(-5)). Our deep resequencing of 131 CD associated genes confirmed 3 reported risk loci and identified 8 novel risk loci for CD in Koreans, providing new insights into the genetic architecture of CD. 25731871" |
| 73 | ?.:OCTN1/2(7) | 10 | 9.9 | Non-Human | |
| 74 | TNFRSF1B | 10 | 6.6 | Experimental evidence of variant | These data constitute the first report of an association of TNFRSF1A and TNFRSF1B polymorphisms with CD in a Caucasian population and address the role of TNFR mutations in determining clinical heterogeneity in CD. 15842589 |
| 75 | CD8A:CD8(11) | 10 | 0 | Annotation error | CD8 is a marker in cells. |
| 76 | IBD3 | 9 | 9.9 | Annotation error | It's a locus not a gene. |
| 77 | HLA-DQB1 | 9 | 3.4 | Other evidences of genetic alterations | |
| 78 | LTA | 9 | 6.6 | Other evidences of genetic alterations | "LT alpha-2 haplotypes were associated with higher TNF alpha production in CD patients--> haplotypes Following haplotype analysis, carriers of the haplotype consisted of the -1031C, -863A, and -857C alleles showed statistically significant association with Crohn's disease (adjusted OR=1.54, 95% CI=1.02-2.32, P=0.040). Significantly reduced frequencies were seen for the carriers of the LTA Thr60Asn polymorphism in patients (OR=0.62; 95% CI=0.42-0.93, P=0.019), suggesting a protective effect on Crohn's disease-->protective against the disease." |
| 79 | MYO9B | 9 | 9.9 | Experimental evidence of variant | Our findings confirm the association between the MYO9B polymorphisms and susceptibility to both ulcerative colitis and Crohn's disease. 17944996. |
| 80 | CCL2 | 9 | 9.9 | Other evidences of genetic alterations | Protein |
| 81 | TLR5 | 9 | 9.9 | Experimental evidence of variant | The incidence of three single nucleotide polymorphisms (SNPs) within the Nod2 gene and one functional SNP within both the Tlr4 and Tlr5 gene in a Dutch cohort of 637 patients with inflammatory bowel disease and 127 controls was investigated. These data provide a concept for the genetic basis of CD; mutations in innate immunity cause similar effects on gene transcription and finally result in comparable clinical disease presentation. 16010583 |
| 82 | CASP1:caspase-1(9) | 9 | 4.2 | Unrelated | The article talks about leprosy. |
| 83 | NR1I2 | 9 | 6.6 | Other evidences of genetic alterations | "In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 21830270" |
| 84 | CCR6 | 8 | 7.7 | Other evidences of genetic alterations | we identified for only 2 of 22 Th17/IL23 genes a cis-expression quantitative trait locus single nucleotide polymorphism that is also associated to IBD (STAT3 and CCR6). 24662057. |
| 85 | MAPK14 | 8 | 0 | Biologically related but no evidence of mutation | |
| 86 | CSF2:GM-CSF(9) | 8 | 0 | Annotation error | Any of all these words refer to a gene. |
| 87 | DEFA5 | 8 | 9.9 | Other evidences of genetic alterations | "Minor allele frequencies for all single nucleotide polymorphisms (SNPs) were somewhat elevated in patients. Subgroup analysis showed SNP A had odds ratio 1.44 in UC patients with pancolitis (95% C.I. 1.07-1.94), SNP B odds ratio 2.37 in CD patients with onset prior to 17 years age (95% C.I. 1.12-5.03), SNP C odds ratio 1.68 in UC patients with left colonic localisation (95% C.I. 1.12-2.52), and SNP D had odds ratio 1.56 in CD patients with one or more relatives with IBD (95% C.I. 1.03-2.35). Two two-marker haplotypes and one three-marker haplotype were associated with UC (p-values 0.025-0.05). 18394979." |
| 88 | F2:prothrombin(9) | 8 | 0 | Unrelated | One IBD patient (1.9%) and four healthy controls (2.6%) were heterozygous for the prothrombin-gene mutation. 10937811. (checked in the paper: CD). |
| 89 | IL27 | 8 | 8 | Experimental evidence of variant | "In conclusion, genetic defects in IL-27 gene showed remarkable associations with CD in Chinese. 25674271." |
| 90 | GSTM1 | 8 | 3.3 | Genetic evidence in a related disease | "Comparing IBD patients (both CD and UC) to healthy controls revealed a pattern of lower GSTM1-null and higher GSTT1-null frequencies, which reached significance in Arab Moslem patients. 21243434." |
| 91 | GSTT1 | 8 | 4.3 | Experimental evidence of variant | GSTT1 null genotype was more frequent both in UC and CD as compared to healthy controls. 17565649. |
| 92 | MSH6 | 8 | 5.4 | Unrelated | |
| 93 | HLA-C | 8 | 3.3 | Biologically related but no evidence of mutation | "HLA-C is down-regulated, the level of HIV control, and the risk of Crohn disease only among those carrying an intact miR-148a binding site in the HLA-C 3'UTR. 24248364." |
| 94 | IBD2 | 8 | 9.9 | Annotation error | NOT A GENE. |
| 95 | IL13 | 8 | 1.5 | Genetic evidence in a related disease | Mainly associated with psoriasis 20415816 Our data showed that the IL-8 -251 T/A and IL-13 -1112 C/T polymorphisms might be associated with the IBD and CRC occurrence and might be used as predictive factors of these diseases in a Polish population. 22741617. |
| 96 | NFKBIA | 8 | 2.1 | Experimental evidence of variant | A polymorphism of the NFKBIA gene is associated with Crohn's disease patients. 13680285. |
| 97 | BTNL2 | 8 | 9.9 | Experimental evidence of variant | Our results confirmed a significant association of CD with the following previously reported risk loci: BTNL2 (rs28362680). 25731871. |
| 98 | PTGER4 | 8 | 7.4 | Other evidences of genetic alterations | Further functional studies are necessary to confirm the results of our in silico analysis and to analyze if changes in PTGER4 expression modulate CD susceptibility. 21548950 |
| 99 | SLCO2A1 | 8 | 9.9 | Biologically related but no evidence of mutation | Association not clear. |
| 100 | TNFAIP3 | 8 | 9.9 | Experimental evidence of variant | "Genotyping of the most common coding polymorphism, rs2230926, in the MADGC collection and additional control individuals revealed a significant association with Sjogren's syndrome (OR=3.38, P=0.038), Crohn's disease. 21326317." |
| 101 | ULK1 | 8 | 8.9 | Experimental evidence of variant | "We report a genetic association with a tSNP in ULK1, an interesting candidate gene for IBD, given the role of ULK1 in autophagy initiation, and the interaction between Nod2 and autophagy pathways. 21560199" |
| 102 | NAT2 | 7 | 9.9 | Experimental evidence of variant | "Frequencies and distributions of NAT2 and UGT1A7 SNPs as well as their haplotypes were investigated in 95 patients with UC, 60 patients with CD (...) It is likely that the NAT2 gene is one of the determinants for CD in Japanese. Alternatively, a new CD determinant may exist in the 8p22 region, where NAT2 is located. 16097053." |
| 103 | IL17F | 7 | 4.9 | Treatment Response | "a G/G genotype of rs766748 in IL-17F, and a C/C or C/A genotype of rs1883136 in TRAF3IP2, independently contributed to response to IFX after 1 year of treatment. Genetic test using the polymorphisms of these genes perfectly predicted the responder and nonresponder CD patients. 26558270." |
| 104 | FGB:fibrinogen(8) | 7 | 0 | Biologically related but no evidence of mutation | "Four novel loci were identified, in addition to the fibrinogen gene cluster, which were associated with fibrinogen levels at genome-wide levels of significance (range of probability values from 8.82 x 10(-09) to 8.04 x 10(-39)). Two of the loci are related to common chronic inflammatory diseases: the first, at locus 5q31.1 (SLC22A5, SLC22A4, IRF1), lies immediately adjacent to a locus linked to Crohn disease. 20031577." |
| 105 | ZNF365 | 7 | 9.9 | Experimental evidence of variant | "11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. 21830272." |
| 106 | HP:haptoglobin(6) | 7 | 9.9 | Other evidences of genetic alterations | We conclude that the Hp polymorphism is associated with CD. 17357835. |
| 107 | IL1A:IL-1A(2) | 7 | 0 | Biologically related but no evidence of mutation | |
| 108 | FASLG | 7 | 1.1 | Other evidences of genetic alterations | rs9286879 |
| 109 | IL10RB | 7 | 9.9 | Experimental evidence of variant | "1 mutation in IL10RB that has been described recently (c.G477A, p.Trp159*. 25373860." |
| 110 | SMAD3 | 7 | 3.2 | Experimental evidence of variant | "Beside numerous chromosomal alterations, mutations in TP53, APC, PTEN and SMAD3 were identified. 27087592." |
| 111 | PMS2 | 7 | 5.6 | Unrelated | |
| 112 | PPARG | 7 | 0.5 | Experimental evidence of variant | The Pro12Ala polymorphism showed significant association with CD when the frequencies of the homozygous variants (Pro/Pro vs. Ala/Ala) were compared. 21710534. |
| 113 | NUDT15 | 7 | 9.9 | Treatment Response | NUDT15 is a pharmacogenetic determinant for thiopurine-induced leukopenia in diverse populations. 25108385 |
| 114 | TLR1 | 7 | 7.3 | Experimental evidence of variant | TLR1 (rs4833095) and IL18 (rs187238) were associated with risk of both CD and UC (p<0.05). 26698117. |
| 115 | XBP1 | 7 | 5.3 | Biologically related but no evidence of mutation | We confirmed 5p13.1 as a major CD susceptibility locus and demonstrate by in silico analysis rs4495224 and rs7720838 as part of binding sites for NF-_B and XBP1. |
| 116 | CASP9 | 7 | 1.1 | Treatment Response | "Fat intake interacts with polymorphisms of Caspase9, FasLigand and PPARgamma apoptotic genes in modulating Crohn's disease activity." |
| 117 | ORMDL3 | 7 | 9.9 | Experimental evidence of variant | "Association with CD was confirmed for NOD2, ATG16L1, IRGM, MTMR3, and ORMDL3. 24247223." |
| 118 | CDH1 | 7 | 0 | Genetic evidence in a related disease | This is the first independent study to replicate the HNF4_ and CDH1 loci as susceptibility loci for UC. |
| 119 | TLR6 | 6 | 7.6 | Experimental evidence of variant | "An association between nonsynonymous variants in the TLR1, -2, and -6 genes and extensive colonic disease in UC and CD was found. 16374251." |
| 120 | COX8A:Cox(4) | 6 | 9.9 | Annotation error | "Only appears ""VIII"" once (and it is not a gene)." |
| 121 | CX3CR1 | 6 | 5 | Experimental evidence of variant | The CX3CR1 T280M polymorphism appears to influence CD phenotype and localization. 16405540. |
| 122 | ?.:NKX2-3(7) | 6 | 9.9 | Non-Human | |
| 123 | DEFA6 | 6 | 9.9 | Biologically related but no evidence of mutation | "e.g In Crohn's disease patients, DEFA5 and DEFA6 mRNA expression levels were 1.9- and 2.2-fold lower." |
| 124 | DEFB4A:DEFB2(2) | 6 | 5.5 | Biologically related but no evidence of mutation | "a lower HBD-2 gene copy number in the beta-defensin locus predisposes to colonic CD, most likely through diminished beta-defensin expression." |
| 125 | CCNY | 6 | 9.9 | Other evidences of genetic alterations | "11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. 21830272." |
| 126 | ICOSLG | 6 | 9.4 | Other evidences of genetic alterations | rs2838519 |
| 127 | A2:70-2(9) | 6 | 9.9 | Genetic evidence in related complications | "Allele A of the 70-2 gene may be associated with a less severe form of CD, suggesting the clinical value of the genotype assessment. 16165702" |
| 128 | LCT:lactase(6) | 6 | 3.9 | Unrelated | The C/C__ and G/G__ genotype of adult-type hypolactasia is not associated with susceptibility to the pathogenesis of Crohn disease and ulcerative colitis. |
| 129 | SMAD4 | 6 | 2.5 | Unrelated | |
| 130 | MIF | 6 | 2.7 | Experimental evidence of variant | The MIF -173G/C polymorphism appears to be a factor contributing to a particular CD phenotype characterized by protection against upper gastrointestinal tract involvement and severe disease activity. 17206642. |
| 131 | SERPINC1:antithrombin(2) | 6 | 0.1 | Biologically related but no evidence of mutation | "antithrombin, and protein C were significantly higher in patients with IBD than in controls" |
| 132 | PIK3CA | 6 | 1.7 | Negative evidence | No PIK3CA mutations were observed. |
| 133 | PTGS2 | 6 | 0 | Experimental evidence of variant | The -765G_C polymorphism was associated with a reduced risk for developing Crohn's disease in a Dutch population. 21124790. |
| 134 | RAC1 | 6 | 1.3 | Genetic evidence in a related disease | "Pasted from the paper [24629926]: The association between RAC1 gene polymorphisms (rs10951982 and rs4720672) and colitis was demonstrated and it was indicated that the presence of rs10951982 risk allele would increase RAC1 protein expression in patients with IBD [1]. However, our results demonstrated that there is no association between RAC1 gene polymorphisms and susceptibility to CD." |
| 135 | STAT5A | 6 | 2.1 | Other evidences of genetic alterations | Additional suggestive associations (P < 4.2 _ 10(-5)) were observed between Crohn's disease and IBD and African-specific SNPs in STAT5A and STAT3. 26278503. |
| 136 | TGFB1 | 6 | 0 | Biologically related but no evidence of mutation | |
| 137 | CD44 | 6 | 0.1 | Biologically related but no evidence of mutation | gene expression decreased in IBD. 11733944 |
| 138 | MICA | 5 | 2.8 | Biologically related but no evidence of mutation | |
| 139 | CDKN2A | 5 | 0 | Unrelated | |
| 140 | GALM:IBD1(6) | 5 | 9.9 | Annotation error | not a gene. |
| 141 | ACE | 5 | 0 | Experimental evidence of variant | There were also significant associations between the risk of CD and both rs4343 AA/(AG+GG) and rs4646994 II/(ID+DD) genotype frequencies (P=0.039 and P=0.019). 26823847. |
| 142 | DEFB1 | 5 | 5.3 | Experimental evidence of variant | "These results indicate that genetic variations in the DEFB1 gene encoding constitutive human beta-defensin 1 may be associated with the risk for Crohn's disease and may determine disease phenotype, e.g. colonic localization. 18938660." |
| 143 | ECM1 | 5 | 8 | Genetic evidence in a related disease | The TT genotype of ECM1 gene rs3737240 SNP significantly increased susceptibility for UC. |
| 144 | NLRP1 | 5 | 6.9 | Annotation error | "Interestingly, NLRP1 SNPs were previously associated to susceptibility to Crohn disease, suggesting that NLRP1 could be a new modifier gene in common between leprosy and Crohn disease. 23770116." |
| 145 | GPR3:ACCA(5) | 5 | 9.2 | Biologically related but no evidence of mutation | |
| 146 | MUC19 | 5 | 9.9 | Other evidences of genetic alterations | "Moreover, we found associations at eight additional loci: GCKR, ATG16L1, CDKAL1, ZNF365, LRRK2-MUC19, C13orf31, PTPN2, and SBNO2." |
| 147 | NR3C1 | 5 | 0.7 | Treatment Response | Our results suggest that variations in the GR/NR3C1 gene are associated with corticosteroid resistance and dependency in pediatric-onset CD. 21633323 |
| 148 | CD274 | 5 | 0.4 | Biologically related but no evidence of mutation | |
| 149 | HMOX1 | 5 | 0.8 | Biologically related but no evidence of mutation | "HO-1 expression in diseased tissues was downregulated in 9 patients (53%) and of the 10 ulcerative colitis patients HO-1 was downregulated in 7 patients (70%), compared with adjacent normal tissues. The downregulation of HO-1 gene expression may lower anti-inflammatory effects and worsen tissue injury in affected areas by inflammatory bowel disease." |
| 150 | A4:70(5) | 5 | 0.2 | Experimental evidence of variant | These data suggest that 70-2 gene polymorphic allele A is a possible genetic marker of less severe clinical phenotype in Japanese patients with Crohn disease. 10466882. Determined by restriction fragment length polymorphism analysis. |
| 151 | IL9:p40(6) | 5 | 2 | Biologically related but no evidence of mutation | |
| 152 | IRF5 | 5 | 5.9 | Experimental evidence of variant | "IRF5 gene polymorphisms may play a role in the development of CD in the Malaysian population. 25564941. A strong signal of association [P = 1.9 x 10(-5), odds ratio (OR) 1.81 (1.37-2.39)] with IBD was observed for a 5 bp indel (CGGGG) polymorphism in the promoter region of the IRF5 gene. 17881657." |
| 153 | NOS2 | 5 | 0 | Experimental evidence of variant | "The NOS2 rs2297518 SNP was found to be associated in VEO-IBD in two independent cohorts. Upon combined analysis, a coding variant (S608L) showed the strongest association with VEO-IBD (Pcombined=1.13 _ 10(-6), OR (odds ratio)=3.398 (95% CI (confidence interval) 2.02-5.717)) as well as associations with VEO-Crohn's disease. 24430113." |
| 154 | IBD6 | 5 | 9.9 | Annotation error | locus. |
| 155 | SERPINA1:AAT(2) | 5 | 0 | Other evidences of genetic alterations | "possible etiologic role of alpha1-antitrypsin deficiency (alpha1AD), most frequently caused by a Z allele mutation, in ulcerative colitis (UC) and Crohn disease (CD). The Z allele only for AAT was associated (P < 0.05) with CD." |
| 156 | CDKAL1 | 5 | 7.5 | Other evidences of genetic alterations | "we found associations at eight additional loci: GCKR, ATG16L1, CDKAL1, ZNF365, LRRK2-MUC19, C13orf31, PTPN2, and SBNO2." |
| 157 | IL21 | 5 | 9.9 | Other evidences of genetic alterations | "Haplotype AAGGTT provided significant evidence to be associated with CD risk (p = 0.007). Our results support the existence of the associations found in the KIAA1109/IL2/IL21 gene region with ADs, thus confirms that the 4q27 locus may contribute to the genetic susceptibility of ADs in the Tunisian population. 25037274." |
| 158 | RBBP4:MSI(5) | 5 | 3.4 | Biologically related but no evidence of mutation | |
| 159 | ERAP2 | 5 | 9 | Experimental evidence of variant | "SNP in the interacting ERAP2 gene increases susceptibility to another inflammatory autoimmune disorder, Crohn's disease (CD). 22253828." |
| 160 | NCF1 | 5 | 4.6 | Other evidences of genetic alterations | "homozygous dinucleotide deletion in the neutrophil cytosolic factor 1 gene that encodes p47(phox). Additional analyses of members of the patient's immediate family showed the same homozygous mutation in 2 siblings, 1 of whom also developed chronic colitis consistent with a diagnosis of Crohn's disease. 15290662." |
| 161 | SPINK1:PstI(6) | 5 | 2.9 | Annotation error | In these cases: restriction enzyme. |
| 162 | STAT6 | 5 | 3.1 | Negative evidence | The STAT6 G2964A gene polymorphism is not involved in the overall susceptibility or in determining the phenotype of IBD. |
| 163 | TCF7L2 | 5 | 4.1 | Biologically related but no evidence of mutation | |
| 164 | VEGFA:VEGF(7) | 5 | 0 | Biologically related but no evidence of mutation | Detecting strong p53 overexpression with VEGF overexpression may help in differentiating inflammatory bowel disease from other colitis. |
| 165 | VIM | 5 | 0 | Biologically related but no evidence of mutation | |
| 166 | CFTR | 4 | 9.9 | Experimental evidence of variant | In all three cohorts an association between DeltaF508 and Crohn's disease (CD) was observed. 17206681. |
| 167 | FCRL3 | 4 | 7.2 | Unrelated | "Mutations related with other diseases and no association between genes in IBDS. So, nothing." |
| 168 | DMBT1 | 4 | 5.6 | Experimental evidence of variant | We identified novel associations of DMBT1 variants with CD susceptibility. 24223725. |
| 169 | ERBB2 | 4 | 0 | Biologically related but no evidence of mutation | "These included the mutation encoding IDH1 R132; amplification of FGFR1, FGFR2, and ERBB2; and mutations encoding BRAF V600E and an EML4-ALK fusion protein. Alterations in IDH1 and APC were significantly more common in CACs from patients with CD than UC." |
| 170 | FCGR2A | 4 | 2.6 | Genetic evidence in a related disease | "Our data suggest that FCGR2A, JAK2 or HNF4A variants play a role in the pathogenesis of ulcerative colitis in Koreans." |
| 171 | PADI4 | 4 | 4.6 | Genetic evidence in a related disease | "haplotype 2 is susceptible to UC. Thus, it is likely that PADI4 is one of genetic determinants of UC in the Japanese population." |
| 172 | HLA-DRB4:DR4(4) | 4 | 1.3 | Biologically related but no evidence of mutation | "The frequencies of HLA-DR4, DRw53 and DQw3 antigens were increased in CD" |
| 173 | IDH1 | 4 | 1.3 | Biologically related but no evidence of mutation | "IDH1-mutated intestinal adenocarcinomas were seen in the setting of both Crohn disease and ulcerative colitis and were located in both the ileum and colon. Compared with intestinal adenocarcinomas not associated with inflammatory bowel disease, adenocarcinomas associated with inflammatory bowel disease more frequently demonstrated IDH mutations (13% vs. 0%, P=0.047). All IDH mutations were identified in IDH1 and resulted in substitution of arginine by cysteine at position 132 (p.R132C, c.394C>T)." |
| 174 | APOE | 4 | 0 | Experimental evidence of variant | "To the best of our knowledge, no published report has indicated any association of APOE polymorphism with CD, and this is the first report showing a significant association with both CD and UC. (TAKEN FROM THE PAPER). 25624723." |
| 175 | LINC01193:CT60(5) | 4 | 9.9 | Negative evidence | "After comparing patients with IBD with the control population, we found no significant deviation in the distribution of the alleles or genotypes of CTLA4/CT60 dimorphism. 15784471." |
| 176 | IL1R1 | 4 | 2.6 | Treatment Response | IL-1 SNPs seem to be associated with IBD and could affect the disease severity as well. 25466956 |
| 177 | IL2RA | 4 | 0 | GWAS evidence within gene | rs12722489 |
| 178 | IL4R | 4 | 2.4 | Experimental evidence of variant | Functionally relevant polymorphisms have been described in the interleukin-4 and the interleukin-4 receptor alpha genes. Association of inflammatory bowel diseases with these polymorphisms has been reported recently suggesting high transcription and enhanced signalling activity in Crohn's disease. 11528525. |
| 179 | IL5 | 4 | 0 | Biologically related but no evidence of mutation | |
| 180 | IL6R | 4 | 1.8 | Other evidences of genetic alterations | "The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD. 24971461" |
| 181 | IL6ST | 4 | 2.3 | Unrelated | 29991969 |
| 182 | IL12RB2 | 4 | 6.9 | Other evidences of genetic alterations | 19235914 haplotype |
| 183 | IL16 | 4 | 3.8 | Experimental evidence of variant | Herein a new association between a promoter polymorphism of the IL-16 gene and Crohn's disease was observed. 12706406. |
| 184 | IRF1 | 4 | 2.4 | Experimental evidence of variant | "Two other SNPs, rs11242115 in IRF1 and rs17166050 in RAD50, lying outside the 250 kb risk haplotype, also showed CD association. 16724073." |
| 185 | ITGAM | 4 | 0.1 | Annotation error | "CD11b is the unique word that appears in the text and is a marker, not a gene." |
| 186 | ITPA | 4 | 5.1 | Treatment Response | Patients with ITPA 94C > A mutations or low TPMT activity constitute a pharmacogenetic high-risk group for drop-out from aza therapy. ITPA 94C>A appears to be a promising marker indicating predisposition to aza intolerance. 16214825 |
| 187 | GSTK1:GSTs(2) | 4 | 0.4 | Annotation error | |
| 188 | LAMB1 | 4 | 7.2 | Genetic evidence in a related disease | the G allele of the LAMB1 single nucleotide polymorphism rs886774 was found to be associated with ulcerative colitis diagnosed at _ 16 versus >17 years old (p = 0.008). |
| 189 | LBP | 4 | 2.4 | Unrelated | Not talking about CD. |
| 190 | LYZ | 4 | 0.7 | Unrelated | "It is used as a marker, but it doesn't show any particular association." |
| 191 | NCF2 | 4 | 4.6 | Experimental evidence of variant | "Sequence analysis identified a novel missense variant in the neutrophil cytosolic factor 2 (NCF2) gene that is associated with very early onset IBD (VEO-IBD) and subsequently found in 4% of patients with VEO-IBD compared with 0.2% of controls (p=1.3_10(-5), OR 23.8 (95% CI 3.9 to 142.5); Fisher exact test). This variant reduced binding of the NCF2 gene product p67(phox) to RAC2. This study found a novel genetic association of RAC2 with Crohn's disease (CD). 21900546." |
| 192 | NRAS | 4 | 0.9 | Other evidences of genetic alterations | "Patients' survival and histological and molecular features including microsatellite instability [MSI] and KRAS/NRAS, BRAF, PIK3CA, TP53, HER2 gene alterations. 28333239" |
| 193 | OMP | 4 | 5.5 | Biologically related but no evidence of mutation | |
| 194 | SERPINE1:PAI-1(4) | 4 | 0 | Genetic evidence in related complications | "Although our study showed no significant association of PAI-1 polymorphism between patients and control group, the carriers of 4G/4G genotype and 4G allele had reduced risk for the progression of IBD features in this cohort." |
| 195 | RNF186 | 4 | 9.9 | Other evidences of genetic alterations | "Three genetic loci were validated for significant association, and all were previously reported in Caucasians including the major histocompatibility complex region (top SNP, rs9271366; P = 1.03 _ 10(-18), odds ratio [OR] = 2.10), 16q24.1 (rs16940186; P = 4.39 _ 10(-10), OR = 1.56), and RNF186-OTUD3-PLA2G2E at chromosome arm 1p36.13 (top SNP, rs4654903 in OTUD3; P = 7.43 _ 10(-9), OR = 0.64). Although failed to reach genome-wide statistical significance. 23511034" |
| 196 | GSDMB | 4 | 9.9 | Other evidences of genetic alterations | "The minor allele A of rs2872507 in GSDMB is the protective allele for asthma but the risk allele for rheumatoid arthritis, Crohn disease, and ulcerative colitis." |
| 197 | BACH2 | 4 | 9.9 | GWAS evidence within gene | rs1847472 |
| 198 | CCL20 | 4 | 2.5 | Biologically related but no evidence of mutation | "Promote chemokine C-C motif ligand 20-mediated migration of human CD4_ T cells, which might be the mechanisms why anti-IL12p40 treatment presented efficacy in CD. 25761185." |
| 199 | CX3CL1 | 4 | 3 | Biologically related but no evidence of mutation | |
| 200 | SLC22A1:organic cation transporter 1(3) | 4 | 3.2 | Experimental evidence of variant | Variations in the SLC22A4 gene encoding OCTN1 are associated with rheumatoid arthritis and Crohn disease. 26994919. 17213842 |
| 201 | BPI | 4 | 4 | Experimental evidence of variant | BPI polymorphism (Lys216Glu) is associated both to CD and UC. 21272798. |
| 202 | PSMG1 | 4 | 9.9 | Other evidences of genetic alterations | "11 of 34 CD SNPs: in IRGM, NOD2 (rs2066845), CCNY, MST1, IL23R, PTPN22, C11orf30, ZNF365, PTPN2, PSMG1, and rs1456893 were significantly associated. 21830272." |
| 203 | IL18RAP | 4 | 7.2 | GWAS evidence within gene | rs2058660 |
| 204 | IL1RL1 | 4 | 2.2 | GWAS evidence within gene | rs13001325 |
| 205 | G6PC3 | 4 | 7.3 | Genetic evidence in a related disease | Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity 25491320 |
| 206 | CD40LG | 4 | 0.7 | Experimental evidence of variant | We confirmed the association of rs2427870 at the CD40LG-ARHGEF6 locus with an inflammatory bowel disease through an X chromosome-wide association study in a Korean population. 28333213. |
| 207 | CD68 | 4 | 0.1 | Annotation error | Annotation Error-->CD68 is not a gene. |
| 208 | CD24 | 3 | 1.2 | Experimental evidence of variant | "Carriers of the C170T SNP were at increased risk of IBD (OR=3.022, 95% CI: 1.748-5.223, p=0.001), UC (OR=3.002, 95% CI: 1.661-5.427, p=0.001) and CD (OR=3.077, 95% CI: 1.334-7.095, p=0.008). 24557789." |
| 209 | ?.:mucin(3) | 3 | 0 | Non-Human | |
| 210 | PSC | 3 | 4.2 | Annotation error | |
| 211 | TAGAP | 3 | 7.3 | Other evidences of genetic alterations | rs212388 |
| 212 | ADAD1 | 3 | 8.7 | Genetic evidence in a related disease | "in UC, epistasis was observed between the IL23R SNP rs1004819 and three SNPs in the KIAA1109/TENR/IL2/IL21 block (rs13151961, rs13119723, and rs6822844)." |
| 213 | CRYGFP:P < 1(2) | 3 | 0.7 | Annotation error | |
| 214 | CSF2RB | 3 | 4.4 | Experimental evidence of variant | "Exome sequencing identified candidate variants, including a missense mutation in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with CD in an independent cohort of Ashkenazi Jewish individuals. 27373512." |
| 215 | CTNNB1:beta-catenin(3) | 3 | 0 | Annotation error | staining method. |
| 216 | CYBB | 3 | 1.4 | Biologically related but no evidence of mutation | No mutations for this illness specifically but related with the disease. |
| 217 | ?.:HD-5 and -6(2) | 3 | 9.9 | Non-Human | |
| 218 | AGER:RAGE(6) | 3 | 1.6 | Experimental evidence of variant | "Carriers of rs2070600-A mutant allele showed a 37% (95%CI: 1.02-1.83, P=0.036) increased risk of developing CD relative to the GG genotype carriers. 24605038." |
| 219 | AHR | 3 | 0.4 | Other evidences of genetic alterations | Haplotypes. 31405308 |
| 220 | FOXO3 | 3 | 1.2 | Genetic evidence in related complications | It has also been reported that the minor G allele from the rs12212067 polymorphism (T>G) in FOXO3 is associated with milder CD. 26226934. |
| 221 | GLI2:THP-1(2) | 3 | 0 | Annotation error | Cell line. |
| 222 | CXCR3 | 3 | 1.2 | Biologically related but no evidence of mutation | "Our study provides evidence of the significant overexpression of the CXCR3 axis in active IBD, suggesting it has a role in IBD pathogenesis" |
| 223 | GUCY2C | 3 | 3.3 | Genetic evidence in a related disease | "The findings support that the activating mutation in GUCY2C creates an intestinal environment with a major influence on the microbiota, which could contribute to the increased susceptibility to IBD in patients with FGDS." |
| 224 | HLA-DRA | 3 | 4.1 | Genetic evidence in a related disease | "three of six UC SNPs (in MST1, HLA-DRA, and IL-23R)" |
| 225 | APAF1:Apaf-1(3) | 3 | 2 | Biologically related but no evidence of mutation | "CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) in the gene were demonstrated to be associated with CD." |
| 226 | HNF4A | 3 | 0.7 | Experimental evidence of variant | An 8-marker P2 promoter haplotype containing rs1884613 was also found associated with CD (P<2.09 _ 10(-4) for combined cohorts). This is the first report showing that the HNF4A locus may be a common genetic determinant of childhood-onset CD. 22914433. |
| 227 | APC | 3 | 1.8 | Unrelated | Talking about different diseases. |
| 228 | HPS1 | 3 | 5.1 | Negative evidence | "Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative." |
| 229 | FAM92B | 3 | 9.9 | Negative evidence | |
| 230 | IFNGR2 | 3 | 3.2 | GWAS evidence within gene | "We identified a genome-wide significant association on chromosome 22q13.2 in the intergenic region between the RBX1 and EP300 genes (single nucleotide polymorphism rs4820425, OR 1.27, 95% CI 1.17 to 1.38, p=3.42E-8). We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. 22936669." |
| 231 | IL11 | 3 | 9.9 | Genetic evidence in a related disease | Other genetic evidence: Haplotype for CD. Related but not mutated: Increased protein phosphorilation. Gen. alteration in a related disease: Mutated for UC. 12486609 |
| 232 | CXCL10 | 3 | 0.1 | Unrelated | No results for CXCL10. |
| 233 | IRAK1 | 3 | 2.5 | Unrelated | |
| 234 | EPCAM | 3 | 1.1 | Biologically related but no evidence of mutation | |
| 235 | SMAD2 | 3 | 1 | Biologically related but no evidence of mutation | Intestinal myofibroblast TRPC6 channel may contribute to stenotic fibrosis in Crohn's disease. |
| 236 | MGMT | 3 | 0.5 | Biologically related but no evidence of mutation | These findings suggest the possibility of a serrated pathway of carcinogenesis in inflammatory bowel disease characterized by silencing of MGMT. |
| 237 | CXCL9 | 3 | 1.3 | Unrelated | Any conclusion is stablished about CXCL9 gene. |
| 238 | MUC1 | 3 | 0 | Biologically related but no evidence of mutation | |
| 239 | MYC | 3 | 0 | Genetic evidence in a related disease | 27063727 |
| 240 | NELL1 | 3 | 5.7 | Annotation error | "In addition, SNP rs1793004 in the gene encoding nel-like 1 precursor (NELL1, chromosome 11p15.1) showed a consistent disease-association in independent German population- and family-based samples. 17684544." |
| 241 | NPR3:guanylate cyclase C(2) | 3 | 3.8 | Biologically related but no evidence of mutation | "Increased GC-C signaling disturbs normal bowel function and appears to have a proinflammatory effect, either through increased chloride secretion or additional effects of elevated cellular cGMP." |
| 242 | DUOX2 | 3 | 3.7 | Experimental evidence of variant | "Exome sequencing identified candidate variants, including a missense mutation in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with CD in an independent cohort of Ashkenazi Jewish individuals. 27373512." |
| 243 | ERAP1 | 3 | 9.9 | Other evidences of genetic alterations | ERAP1 and HLA-C interaction in inflammatory bowel disease in the Spanish population. |
| 244 | ACP1 | 3 | 3.6 | Biologically related but no evidence of mutation | |
| 245 | PIK3CD:PI3K(3) | 3 | 0 | Biologically related but no evidence of mutation | We found that human macrophages expressed DR3 and that TNFSF15:DR3 interactions were critical for amplifying PRR-initiated MAPK/NF-_B/PI3K signaling and cytokine secretion in macrophage. |
| 246 | KRT20:CD20(2) | 3 | 9.9 | Annotation error | CD20 is a marker. |
| 247 | POU2F1:OCT1(2) | 3 | 2.6 | Biologically related but no evidence of mutation | |
| 248 | PPARA | 3 | 0 | Genetic evidence in a related disease | PPAR_ Pro12Ala and LXR T-rs2695121-C homozygous variant genotypes were associated with risk of UC. |
| 249 | MAPK1:ERK(3) | 3 | 0 | Biologically related but no evidence of mutation | |
| 250 | MAPK8:JNK(3) | 3 | 0 | Biologically related but no evidence of mutation | |
| 251 | AICDA:AID(2) | 3 | 0 | Unrelated | |
| 252 | RAC2 | 3 | 3.1 | Biologically related but no evidence of mutation | This study found a novel genetic association of RAC2 with Crohn's disease (CD) and replicated the previously reported association of NCF4 with ileal CD. |
| 253 | RELA:p65(2) | 3 | 9.9 | Biologically related but no evidence of mutation | "Leu1007fsinsC homozygotes demonstrated decreased transcriptional response to MDP. Electromobility shift assay demonstrated that MDP-induced NF-kappaB activation is mediated via p50 and p65 subunits," |
| 254 | CXCL11 | 3 | 2 | Unrelated | |
| 255 | PRDM1 | 3 | 2.7 | Other evidences of genetic alterations | rs6568421 |
| 256 | SP1 | 3 | 0 | Biologically related but no evidence of mutation | The insertion of one CGGGG unit is predicted to create an additional binding site for the transcription factor SP1. |
| 257 | ADAM17:TACE(2) | 3 | 1.1 | Treatment Response | One haplotype in the ADAM 17 region was associated with a clinical response to infliximab in CD patients (adjusted P=0.045). 17001292 |
| 258 | TCF4 | 3 | 1.8 | Biologically related but no evidence of mutation | Same as TCF7L2. |
| 259 | TCN2 | 3 | 2.8 | Experimental evidence of variant | TCN2 rs1801198 mutation might be associated with increased risk of stricturing CD. 27545030. |
| 260 | TLR3 | 3 | 0.9 | Biologically related but no evidence of mutation | "NOD2 is a modulator of signals transmitted through TLR4 and TLR3," |
| 261 | CCR2 | 3 | 9.9 | Experimental evidence of variant | "In conclusion, the present study supports the involvement of chemokine receptor (CCR2 and CCR5) polymorphisms in activity degree of the IBD disease in Tunisian patients. 23461143." |
| 262 | TYK2 | 3 | 2.6 | Other evidences of genetic alterations | TYK2 and STAT3 are genetic determinants of CD in the Japanese population. 19653082. This study is the first demonstration of the single marker association of tyrosine kinase-2 polymorphisms with ulcerative colitis and Crohn's disease in Turkish population. 25744728. |
| 263 | KIAA1109 | 3 | 7 | Other evidences of genetic alterations | "Haplotype AAGGTT provided significant evidence to be associated with CD risk (p = 0.007). Our results support the existence of the associations found in the KIAA1109/IL2/IL21 gene region with ADs, thus confirms that the 4q27 locus may contribute to the genetic susceptibility of ADs in the Tunisian population. 25037274." |
| 264 | MAP1LC3A:LC3(3) | 3 | 1 | Unrelated | |
| 265 | TNFRSF25:DR3(3) | 3 | 1.2 | Biologically related but no evidence of mutation | "Taken together, TNFSF15:DR3 interactions amplify PRR-induced signaling and cytokines, and the rs6478108 TNFSF15 disease-risk polymorphism results in a gain of function." |
| 266 | TNFRSF6B | 3 | 4.1 | Other evidences of genetic alterations | "All three CD specific paediatric polymorphisms on PSMG1 and TNFRSF6B showed a trend of association with p<0.1. An additive gene-gene interaction involving TLR4, PSMG1, TNFRSF6B and IRGM was identified with CD. Genes involved in microbial processing (TLR4, PSMG1, NOD2) were significantly associated either at the individual level or in gene-gene interactive roles. 21079743" |
| 267 | HERC2 | 3 | 5.4 | Biologically related but no evidence of mutation | |
| 268 | PHOX2B | 3 | 3.6 | Unrelated | "Recently, a North American genome-wide association study identified three novel gene variants in PHOX2B, NCF4, and FAM92B as well as one single nucleotide polymorphisms (SNP; rs224136) in the intergenic region on chromosome 10q21.1 as being associated with Crohn's disease (CD). 19262523." |
| 269 | ATG16L2 | 3 | 8.6 | Experimental evidence of variant | "Further analysis of the 11q13 locus revealed a non-synonymous single nucleotide polymorphism (SNP) (R220W/rs11235604) in the evolutionarily conserved region of ATG16L2 with stronger association (OR=1.61, combined p=2.44_10(-12)) than rs11235667, suggesting ATG16L2 as a novel susceptibility gene for CD and rs11235604 to be a potential causal variant of the association. 23850713." |
| 270 | PSTPIP1 | 3 | 5.8 | Annotation error | The CCTG repeat in the PSTPIP1 promoter may play a role in the pathogenesis of AA and of CD. 19731031. |
| 271 | IL33 | 3 | 1.4 | Other evidences of genetic alterations | "23634226. Intergenic SNP, from GWAs This study is for asthma." |
| 272 | NLRP12 | 3 | 5.4 | Genetic evidence in related complications | "31169706, an impact on the production of tumor necrosis factor-alpha (TNF_) in patients with inflammatory bowel disease" |
| 273 | CD80 | 3 | 0.2 | Biologically related but no evidence of mutation | |
| 274 | CD86 | 3 | 0.1 | Biologically related but no evidence of mutation | |
| 275 | MAGI2 | 3 | 5.3 | Negative evidence | "however, there was no association of MAGI2 and PARD3 with IBD." |
| 276 | A1BG:GAB(2) | 2 | 2.1 | Annotation error | goblet cells (celulas caliciformes). |
| 277 | ADA | 2 | 9.9 | Genetic evidence in a related disease | "In Sardinia, the frequency of the *L(M)/ADA*2 gametic type is negatively correlated with past malarial endemia, suggesting an increased susceptibility to malaria leading to its decrease in areas with high malarial endemia. 15761857" |
| 278 | RAD50 | 2 | 1.5 | Unrelated | Talking about asthma. |
| 279 | ?.:RAGE(2) | 2 | 0.8 | Non-Human | |
| 280 | CALCOCO2 | 2 | 4.2 | Experimental evidence of variant | "23624108, We identified an association between CD and a common missense variant, Val248Ala, in nuclear domain 10 protein 52 (NDP52) (P = 4.83 _ 10(-9)). We found that this variant impairs the regulatory functions of NDP52 to inhibit nuclear factor _B activation of genes that regulate inflammation and affect the stability of proteins in Toll-like receptor pathways. Crohn disease (CD) we sequenced 42 whole exomes of patients with CD and five healthy control individuals, resulting in identification of a missense mutation in the autophagy receptor calcium binding and coiled-coil domain 2 (CALCOCO2/NDP52) gene. 23820297." |
| 281 | CDKN2B | 2 | 9.9 | Annotation error | "CDKN2A/CDKN2B locus, not the gene" |
| 282 | ?.:c.3019(2) | 2 | 9.9 | Non-Human | |
| 283 | CDX2 | 2 | 0.7 | Biologically related but no evidence of mutation | |
| 284 | TRAF3IP2 | 2 | 2.6 | Treatment Response | "a C/C or C/A genotype of rs1883136 in TRAF3IP2, independently contributed to response to IFX after 1 year of treatment. Genetic test using the polymorphisms of these genes perfectly predicted the responder and nonresponder CD patients. (...) TRAF3IP2 are one of IFX-related genes, useful as biomarkers of IFX response, and may be target molecules for new therapeutic drugs. 26558270." |
| 285 | IRAK3:IRAK-M(3) | 2 | 3.5 | Biologically related but no evidence of mutation | |
| 286 | ADCY7 | 2 | 4.8 | Genetic evidence in a related disease | "28067910, Significant for UC" |
| 287 | ATG4A | 2 | 9.9 | Genetic evidence in related complications | "22261526, granuloma formation" |
| 288 | CNR1 | 2 | 0.1 | Genetic evidence in related complications | The CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype. 20195480. |
| 289 | CNR2 | 2 | 0.7 | Negative evidence | These pilot findings suggest that CB2 Q63R polymorphism does not play a major role in genetic susceptibility to IBD or in its disease phenotypes among Turkish subjects. |
| 290 | COL1A1 | 2 | 0.6 | Genetic evidence in related complications | COL1A1 gene polymorphisms influence BMD in patients with Crohn's disease. BMD means bone mineral density. |
| 291 | CREM | 2 | 1.3 | Experimental evidence of variant | "One CREM single nucleotide polymorphism (SNP) displayed evidence for genetic association with IBD (p=8.7_10(-4), odds ratio [OR]=2.84 [1.58; 5.09]). 22019623" |
| 292 | CSF1R | 2 | 0.9 | Experimental evidence of variant | We conclude that the colony stimulating factor receptor 1 gene may be a susceptibility gene for Crohn's disease. 15144560. Taken from 16708222 publication: there was no evidence that the 2033T variant is a major risk factor for CD in New Zealand. |
| 293 | CSF3:G-CSF(1) | 2 | 0 | Unrelated | |
| 294 | HORMAD2 | 2 | 6.2 | Unrelated | No results. |
| 295 | CYLD | 2 | 9.9 | GWAS evidence within gene | "CD-association for 195 genes, identifying novel susceptibility genes (e.g., ISX, SLCO6A1, TMEM183A) as well as confirming many previously identified susceptibility genes in CD GWAS (e.g., IL23R, NOD2, CYLD, NKX2-3, IL12RB2, ATG16L1). 23071489. Ten single nucleotide polymorphisms (SNPs) in four genes were significantly associated with CD: CYLD, USP40, APEH and USP3. CYLD was the most significant gene with the intronically located rs12324931 the strongest associated SNP. 24092863." |
| 296 | CYP1A1 | 2 | 0 | Unrelated | No resuts for this gene. |
| 297 | CYP2D6 | 2 | 9.9 | Negative evidence | |
| 298 | DAP | 2 | 2 | Annotation error | |
| 299 | IDO2 | 2 | 3.5 | Negative evidence | No IDO2 SNPs associated with a particular Crohn's disease clinical phenotype. |
| 300 | ATN1:Nod(2) | 2 | 1.2 | Annotation error | NOD (proteins). Nod as genes have been discussed as independent terms. |
| 301 | AGT | 2 | 0 | Experimental evidence of variant | "17047091, A variant in the angiotensinogen gene promoter results in increased peptide production, only significant in in one cohort" |
| 302 | EGFR | 2 | 0 | Unrelated | |
| 303 | EP300 | 2 | 0 | Other evidences of genetic alterations | "We identified a genome-wide significant association on chromosome 22q13.2 in the intergenic region between the RBX1 and EP300 genes (single nucleotide polymorphism rs4820425, OR 1.27, 95% CI 1.17 to 1.38, p=3.42E-8). We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. 22936669." |
| 304 | ESR1 | 2 | 0 | Biologically related but no evidence of mutation | |
| 305 | KIF21B | 2 | 6 | Biologically related but no evidence of mutation | It has been reported that the KIF21B gene is relevant to the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC). Where is the original publication? It is needed to conclude if mutations for this gene have been already reported or not. |
| 306 | CLEC16A | 2 | 4 | GWAS evidence within gene | "The effect of rs2903692 previously described in diabetes was observed specifically for Crohn's disease (CD) patients lacking the main susceptibility factor described to date, that is, three polymorphisms within another pattern recognition gene... 19337309." |
| 307 | FN1:fibronectin(1) | 2 | 0 | Biologically related but no evidence of mutation | "18839425, Fibronectin (transcript variant 1, NM_002026) could be confirmed as being upregulated in CD with a ratio of 143." |
| 308 | DDX58 | 2 | 1 | Biologically related but no evidence of mutation | "furthermore, IRGM's interaction with NOD2, and additional pattern recognition receptors such as NOD1, RIG-I, and select TLRs, transduces microbial signals to the core autophagy apparatus. (IRGM is a mutated gene in this disease)." |
| 309 | LY96 | 2 | 1.9 | Genetic evidence in a related disease | "the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC." |
| 310 | FUT3 | 2 | 2.5 | Genetic evidence in related complications | Mutations of FUT3 (rs28362459) and (rs3745635) might influence the lesion locations in CD patients. 24720527. FUT3 (rs28362459 and rs3745635) mutations may engender the increased risk of ileocolonic and ileal CD. 26663064. |
| 311 | IPMK | 2 | 9.9 | Unrelated | Talking about Alzheimer disease. |
| 312 | C10orf67 | 2 | 9 | Biologically related but no evidence of mutation | "Because NOD2 signaling plays a key role in CD, it is important to further characterize the network of protein interacting with NOD2. Using yeast two hybrid (Y2H) screens, we identified new NOD2 interacting proteins (NIP). The primary interaction was confirmed by coimmunoprecipitation and/or bioluminescence resonance energy transfer (BRET) experiments for 11 of these proteins (ANKHD1, CHMP5, SDCCAG3, TRIM41, LDOC1, PPP1R12C, DOCK7, VIM, KRT15, PPP2R3B, and C10Orf67)." |
| 313 | Mm.Nod2 | 2 | 2.5 | Non-Human | |
| 314 | GCKR | 2 | 2.5 | GWAS evidence within gene | rs780093 |
| 315 | SLC17A5:AST(2) | 2 | 0 | Annotation error | |
| 316 | ?.:Pc=0.001(2) | 2 | 5.7 | Non-Human | |
| 317 | ABO | 2 | 0 | Annotation error | ABO type blood group. |
| 318 | GP2 | 2 | 2.2 | Biologically related but no evidence of mutation | |
| 319 | Bt.SLC11A1 | 2 | 5.1 | Non-Human | |
| 320 | GPR35 | 2 | 4.2 | Other evidences of genetic alterations | "We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 _ 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 _ 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 _ 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 _ 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 _ 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 _ 10, OR = 1.35), bringing the number of known CD loci. 25489960." |
| 321 | GPX1 | 2 | 1.3 | Negative evidence | "unrelated, it was also observed for genotype T / T and T allele of the same polymorphism and genotypes and alleles + 35A / C SOD1 in UC as well as polymorphic variants CAT -262 C / T, Pro197Leu of GPx1, + 35A / C SOD1 in CD." |
| 322 | GRB2 | 2 | 0.7 | Biologically related but no evidence of mutation | |
| 323 | CLEC2D | 2 | 4.7 | Experimental evidence of variant | "However, one polymorphism in LLT1 was found to be associated with our CD population (P<0.034). 22664939." |
| 324 | Rn.Tlr4 | 2 | 0.7 | Non-Human | |
| 325 | TBX21 | 2 | 1.1 | Treatment Response | "Eight functional SNPs were associated with anti-TNF response either among patients with CD (TLR5 (rs5744174) and IFNGR2 (rs8126756)), UC (IL12B (rs3212217), IL18 (rs1946518), IFNGR1 (rs2234711), TBX21 (rs17250932) and JAK2 (rs12343867). 28139755." |
| 326 | Rn.Lrrk2 | 2 | 4.6 | Non-Human | |
| 327 | CFH | 2 | 0.4 | Unrelated | Talking about Type 1 diabetes. |
| 328 | ANXA5:annexin V(2) | 2 | 0 | Annotation error | Annexin V as marker. |
| 329 | CD209 | 2 | 1.9 | Genetic evidence in a related disease | "A functional variant in the CD209 gene, rs4804803, does not seem to be influencing Crohn's disease susceptibility. However, it could be involved in the etiology or pathology of Ulcerative Colitis in HLA-DR3-positive individuals but further studies are necessary." |
| 330 | HLA-DPB1:DPB-1(1) | 2 | 0.8 | Biologically related but no evidence of mutation | |
| 331 | HLA-DQA1 | 2 | 0.7 | Other evidences of genetic alterations | |
| 332 | HLA-DRB5 | 2 | 3.9 | Unrelated | Talking about different diseases. |
| 333 | HLA-G | 2 | 0.2 | Experimental evidence of variant | polymorphism in exon 8 of the HLA-G gene is associated with the risk of CD. 25577194. |
| 334 | A1A | 2 | 9.9 | Biologically related but no evidence of mutation | |
| 335 | A1B | 2 | 3.2 | Biologically related but no evidence of mutation | |
| 336 | A5:BiP(1) | 2 | 0.1 | Unrelated | Is a marker...and there is no association. |
| 337 | IRF8 | 2 | 2.2 | Biologically related but no evidence of mutation | "We find associations with the IRF8 region and the region containing CDH1 and CDH3, as well as substantial phenotypic and genetic heterogeneity for CD itself." |
| 338 | IFNGR1 | 2 | 2.4 | Treatment Response | "Eight functional SNPs were associated with anti-TNF response either among patients with CD (TLR5 (rs5744174) and IFNGR2 (rs8126756)), UC (IL12B (rs3212217), IL18 (rs1946518), IFNGR1 (rs2234711), TBX21 (rs17250932) and JAK2 (rs12343867)). 28139755." |
| 339 | FAS:Apo1(2) | 2 | 0 | Experimental evidence of variant | Fas/Apo1 GENE: Fas-670 polymorphism was associated with the development of CD and UC in the Tunisian population. 19653342. |
| 340 | IL12RB1 | 2 | 2.5 | Other evidences of genetic alterations | "19235914, haplotypes" |
| 341 | IL15RA | 2 | 2.7 | Unrelated | |
| 342 | IDO1 | 2 | 9.9 | Genetic evidence in related complications | "IDO2 minor allele variants were common and one of them, rs45003083, associated with reduced risk of Crohn's disease (p_=_0.025). IT COULD BE ""RELATED BUT NOT MUTATED"", AS WELL." |
| 343 | KCNN4 | 2 | 9.9 | Experimental evidence of variant | Our data implicate the role of KCNN4 in ileal CD. KCNN4 SNP rs2306801 was associated with CD. 20407432. |
| 344 | KRT8:keratin 8(2) | 2 | 0.9 | Experimental evidence of variant | THIS IS IN GENERAL FOR IBDs :We have identified miss-sense mutations in keratin 8 in a subset of patients with inflammatory bowel disease (Crohn disease and ulcerative colitis). 15090596 |
| 345 | LY75 | 2 | 3.1 | GWAS evidence within gene | "We replicated the association of 4 loci with different Crohn's disease phenotypes. Variants in MAGI1, CLCA2, 2q24.1, and LY75 loci were associated with a complicated stricturing disease course. 25557950." |
| 346 | MIR146A | 2 | 1 | Unrelated | No positive results for MIR146A. |
| 347 | MIR196A2 | 2 | 3.1 | Genetic evidence in related complications | "We showed for the first time that polymorphisms in MIR122, MIR196A2, and MIR124A could play a role in clinical phenotype modulation in IBD. 27718165." |
| 348 | MAF | 2 | 1.5 | Annotation error | Minor allele frequency. |
| 349 | MAPT | 2 | 0.5 | Biologically related but no evidence of mutation | "Amongst these we find compelling functional candidate genes such as MAPT, GRB2 and CREM, LCT, and IL12RB2." |
| 350 | MBP | 2 | 0 | Biologically related but no evidence of mutation | |
| 351 | MAP3K4 | 2 | 3.4 | Biologically related but no evidence of mutation | We identified a novel TLR signaling defect in CD patients involving MAP3K4 and IL-1A. |
| 352 | MICB | 2 | 2.4 | Negative evidence | 11782275 |
| 353 | MSH5 | 2 | 4 | Unrelated | |
| 354 | Bt.NOD2 | 2 | 5.7 | Non-Human | |
| 355 | MST1R | 2 | 1.9 | Other evidences of genetic alterations | The LD with these functional MST1R variants implicate this gene as having a possible role in CD pathogenesis. 18200509. |
| 356 | MTRR | 2 | 1.7 | Experimental evidence of variant | "The MTRR AA genotype was a significant independent predictor of CD risk (odds ratio 3.7, 95% CI 1.218-11.649, P= 0.0213). The level of superoxide dismutase was significantly higher (P= 0.0143) and was correlated with Crohn's Disease Activity Index (CDAI) scores (P for trend = 0.0276) in patients carrying MTRR AA genotype. 17925002." |
| 357 | MVK | 2 | 2.4 | Unrelated | |
| 358 | CEACAM6 | 2 | 9.9 | Negative evidence | |
| 359 | NPC1 | 2 | 1.4 | Biologically related but no evidence of mutation | |
| 360 | SLC11A2 | 2 | 2.3 | Negative evidence | CD patients did not reveal any mutations in NRAMP2. |
| 361 | IBD4 | 2 | 7.3 | Other evidences of genetic alterations | Is a locus 14q11. 15194648 |
| 362 | NDUFA13:GRIM-19(3) | 2 | 3.9 | Negative evidence | No abstract (but the title is consistent) |
| 363 | IRAK4 | 2 | 2.4 | Unrelated | |
| 364 | TLR7 | 2 | 0.7 | Unrelated | |
| 365 | TLR8 | 2 | 1.7 | GWAS evidence within gene | The rs2407992 and the rs5744067 were associated with susceptibility to BD and CD. 26486764. |
| 366 | PDCD1 | 2 | 0 | Other evidences of genetic alterations | rs35320439 |
| 367 | PECAM1:PECAM-1(2) | 2 | 0 | Annotation error | |
| 368 | TREM1 | 2 | 2.3 | Negative evidence | "However, TREM-1 SNPs were not significantly associated with the development of Crohn's disease or ulcerative colitis." |
| 369 | POU5F1 | 2 | 0 | Experimental evidence of variant | "single nucleotide polymorphisms in POU5F1, TNFSF15, and HLA DRB1*501 were associated with age of Crohn's disease. 25664710. ORIGINAL PUBLICATION NEEDED!" |
| 370 | UGT1A1 | 2 | 9.9 | Biologically related but no evidence of mutation | "The homozygous state of the UGT1A1*28 polymorphism, associated with higher serum bilirubin levels, may be protective for the development of Crohn's disease, suggesting that the anti-oxidant capacity of bilirubin may play a part." |
| 371 | IL26 | 2 | 9.9 | Biologically related but no evidence of mutation | |
| 372 | PARD3 | 2 | 2.6 | Negative evidence | "however, there was no association of MAGI2 and PARD3 with IBD." |
| 373 | EMSY:C11orf30(2) | 2 | 4.2 | Other evidences of genetic alterations | |
| 374 | IBD7 | 2 | 8.4 | Annotation error | It is a locus called IBD7. |
| 375 | ZMIZ1 | 2 | 4.8 | GWAS evidence within gene | "ZMIZ1 at 10q22 (rs1250569; P = 3.05 _ 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 _ 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 _ 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 _ 10, OR = 1.35), bringing the number of known CD loci. 25489960." |
| 376 | PTEN | 2 | 0 | Experimental evidence of variant | "Beside numerous chromosomal alterations, mutations in TP53, APC, PTEN and SMAD3 were identified. 27087592." |
| 377 | NECTIN1:PRR(2) | 2 | 2.6 | Annotation error | |
| 378 | CXCL16 | 2 | 9.9 | Experimental evidence of variant | "However, the G allele of CXCL16 rs2277680 was found to have a weak association with CD patients (...) Further ethnic-stratified analysis showed that the significant associations in CXCL16 rs2277680 and TLR4 rs4986791 were accounted by the Malay cohort. In conclusion, the present study reported two CD-predisposing loci in the Malay CD patients. 27069792." |
| 379 | CCND1 | 2 | 0 | Biologically related but no evidence of mutation | |
| 380 | BCL2 | 2 | 0 | Biologically related but no evidence of mutation | |
| 381 | RET | 2 | 9.9 | Unrelated | "MEN: ""Multiple endocrine neoplasia"" syndrome. RET gene is analyzed in a patient with that disease." |
| 382 | BRD2 | 2 | 1.6 | GWAS evidence within gene | rs1049526 |
| 383 | ?.:SAA(2) | 2 | 0.6 | Non-Human | |
| 384 | CXCL5 | 2 | 1.7 | Biologically related but no evidence of mutation | The chemokine CXCL5 which is expressed by epithelial cells within colorectal mucosa is a chemoattractant for neutrophils and has been implicated in Crohn's disease and ulcerative colitis. |
| 385 | CXCL12 | 2 | 0 | GWAS evidence within gene | "Genotyping for polymorphisms in CXCL12/CXCR4 and MIF was performed by RFLP-PCR. Statistical significance was found for polymorphisms CXCR4, a receptor gene for CXCL12 genotypes and alleles in CD. 24687413." |
| 386 | SELL:L-selectin(3) | 2 | 0 | Genetic evidence in related complications | "19212205, stricturing behavior." |
| 387 | SLC39A8 | 2 | 3.9 | Experimental evidence of variant | "We identified an association between CD and a missense variant encoding alanine or threonine at position 391 in the zinc transporter solute carrier family 39, member 8 protein (SLC39A8 alanine 391 threonine, rs13107325). 27492617." |
| 388 | SFTPD | 2 | 1.3 | Experimental evidence of variant | Case-control analysis revealed a significant association of rs2243639 with susceptibility to Crohn's disease (CD). 21790524. |
| 389 | H3P16:p21(3) | 2 | 0 | Annotation error | |
| 390 | SHC1 | 2 | 0.9 | Biologically related but no evidence of mutation | |
| 391 | CASD1:O-acetyltransferase(2) | 2 | 4.4 | Biologically related but no evidence of mutation | "13 CD patients, all younger than 49 years, by quantifying crypt-restricted loss of O-acetyltransferase activity in sections of morphologically normal colonic mucosa from individuals heterozygous for this monogenically inherited polymorphism." |
| 392 | SLC10A2 | 2 | 2.4 | Other evidences of genetic alterations | "haplotype carriers with the minor allele exhibited significant reduced ileal SLC10A2 expression on mRNA levels (2.6-fold, P = 0.0009) and protein levels (2.4-fold, P = 0.0157). In future studies a single tag SNP selected of this haplotype block will provide reliable genetic testing to investigate systemically the influence of the SLC10A2 haplotype for disease susceptibility and/or drug response. 19184108" |
| 393 | ?.:organic cation transporter 1/2(2) | 2 | 9.9 | Non-Human | |
| 394 | SOD1 | 2 | 0 | Unrelated | The potential protective effect without statistical relationships were also observed for other genotypes and alleles studied polymorphic variants of antioxidant enzymes in CD and CAT- 262C / T and + 35 A / C SOD1 in UC. |
| 395 | SOX9 | 2 | 0.4 | Biologically related but no evidence of mutation | |
| 396 | STAT5B | 2 | 1.8 | Negative evidence | "No significant association was observed with the SNPs in STAT5a, IRF5, and STAT5b" |
| 397 | MAP3K7:TAK1(3) | 2 | 1.2 | Biologically related but no evidence of mutation | |
| 398 | TF:transferrin(2) | 2 | 0 | Biologically related but no evidence of mutation | |
| 399 | TIMP1:TIMP-1(2) | 2 | 0 | Experimental evidence of variant | The TIMP-1 genotype TT in women and T in men at SNP +372 T/C was found to increase CD susceptibility. 17589947. |
| 400 | TNFSF4 | 2 | 9.9 | Unrelated | |
| 401 | UBE2L3 | 2 | 3.5 | Other evidences of genetic alterations | "rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 _ 10(-5), OR: 2.59) associated with pediatric UC and CD, respectively. 22592522." |
| 402 | VIL1 | 2 | 3.6 | Unrelated | No results for this gene. |
| 403 | WAS:Wiskott-Aldrich syndrome protein(2) | 2 | 1 | Unrelated | |
| 404 | ZAP70 | 2 | 0.6 | GWAS evidence within gene | ZAP70 displayed a strong genetic association with CD for rs13420683. 23406209 |
| 405 | CXCR4 | 2 | 0 | Experimental evidence of variant | "Genotyping for polymorphisms in CXCL12/CXCR4 and MIF was performed by RFLP-PCR. Statistical significance was found for polymorphisms CXCR4, a receptor gene for CXCL12 genotypes and alleles in CD. 24687413." |
| 406 | PDCD1LG2 | 2 | 9.9 | Biologically related but no evidence of mutation | "Thus, tumor PDCD1LG2 expression is inversely associated with Crohn-like lymphoid reaction." |
| 407 | TLR10 | 2 | 3.2 | GWAS evidence within gene | This study provides evidence to suggest that genetic variation in TLR10 plays a role in interindividual differences in CD susceptibility and clinical outcome. 22342453 |
| 408 | CAMP:LL-37(2) | 2 | 0.4 | Biologically related but no evidence of mutation | |
| 409 | CASP8:caspase-8(3) | 2 | 0 | Biologically related but no evidence of mutation | Mechanisms mediating TNFSF15:DR3 contributions to PRR outcomes included TACE-induced TNFSF15 cleavage to soluble TNFSF15; soluble TNFSF15 then led to TRADD/FADD/MALT-1- and caspase-8-mediated autocrine IL-1 secretion. |
| 410 | CAT | 2 | 0 | Unrelated | |
| 411 | GPR65 | 2 | 9.9 | GWAS evidence within gene | rs8005161 |
| 412 | HAVCR2 | 2 | 1.4 | Negative evidence | |
| 413 | UBASH3B:p70(2) | 2 | 1.7 | Biologically related but no evidence of mutation | Interleukin-12-p70 cytokine production was higher (P=0.04) in lymphocytes from controls with two alleles of the 5-bp insertion. |
| 414 | RUNX1 | 2 | 0.1 | Unrelated | |
| 415 | RNASET2 | 2 | 3.9 | Other evidences of genetic alterations | rs2149085 |
| 416 | PER3 | 2 | 2.5 | GWAS evidence within gene | "In particular, the rs2797685 variant of the PER3 gene is associated with a more aggressive form of CD. 22881285." |
| 417 | MTMR3 | 2 | 5.5 | GWAS evidence within gene | "Association with CD was confirmed for NOD2, ATG16L1, IRGM, MTMR3, and ORMDL3. 24247223." |
| 418 | HPS4 | 2 | 4.9 | Unrelated | "In a long term they are talking about CD (long, long term) although they do not obtain positive evidences of mutations." |
| 419 | NAT1 | 2 | 1.8 | Treatment Response | NAT1 genotype affects TGN levels in patients treated with thiopurines and aminosalicylates and could therefore influence the toxicity and efficacy of these drug. |
| 420 | HAP1 | 2 | 9.9 | Annotation error | Hap 1/Hap 1 diplotype of TYK2 independently contributes to the pathogenesis of CD and significantly increases the odds ratio to 7.486 for CD (P = 0.0008). |
| 421 | ARHGEF2 | 2 | 1.9 | Biologically related but no evidence of mutation | 21887730 |
| 422 | MAGI1 | 2 | 3.9 | GWAS evidence within gene | "We replicated the association of 4 loci with different Crohn's disease phenotypes. Variants in MAGI1, CLCA2, 2q24.1, and LY75 loci were associated with a complicated stricturing disease course. 25557950." |
| 423 | CD19 | 2 | 9.9 | Annotation error | CD19 is a type of lymphocyte. |
| 424 | SLC9A3R1 | 2 | 2.2 | Unrelated | No evidences of mutations in this gene for this disease. |
| 425 | ABCG2 | 2 | 0 | Negative evidence | "The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls." |
| 426 | TNFSF8 | 2 | 3.5 | Experimental evidence of variant | "Our results confirmed a significant association of CD with the following previously reported risk loci: (...) TNFSF8 (rs3181374, OR=1.53, p=1.03_10(-14)). 25731871." |
| 427 | LY86 | 2 | 9.9 | Unrelated | |
| 428 | CD34 | 2 | 0 | Unrelated | No results in order to summarize if there is any relation. |
| 429 | ATG5 | 2 | 0.9 | Biologically related but no evidence of mutation | 23335927 Autophagy-deficient Paneth cells exhibited a striking loss of function in this granule exocytosis pathway. Transcriptional analysis revealed a gain of function whereby the gene expression associated with inflammatory responses was increased in autophagy-deficient Paneth cells. |
| 430 | CD40 | 2 | 0 | GWAS evidence within gene | "20634952, 5 prime utr variant, from GWAS" |
| 431 | SETD1A | 2 | 1.9 | Annotation error | SET (of) |
| 432 | CDH2 | 1 | 0 | Biologically related but no evidence of mutation | "N-cadherin is not a gene, but CH2 it is." |
| 433 | ?.:SLC2A14(1) | 1 | 0 | Non-Human | |
| 434 | CDKN2B-AS1 | 1 | 0 | Other evidences of genetic alterations | "29063720, from GWAS upstream" |
| 435 | CDH3 | 1 | 0 | Biologically related but no evidence of mutation | "We find associations with the IRF8 region and the region containing CDH1 and CDH3, as well as substantial phenotypic and genetic heterogeneity for CD itself. The genes are known to be involved in inflammation and immune dysregulation." |
| 436 | Ss.NOD2 | 1 | 0 | Non-Human | |
| 437 | ?.:MUC3(2) | 1 | 0 | Non-Human | |
| 438 | HDAC5:HD5(1) | 1 | 0 | Annotation error | |
| 439 | IBD19:IBD1-9(1) | 1 | 0 | Annotation error | Not a gene (immflamatory bowel disease1-9 loci) |
| 440 | LINC00994 | 1 | 0 | Unrelated | |
| 441 | Dr.nod1 | 1 | 0 | Non-Human | |
| 442 | Oc.NOD2 | 1 | 0 | Non-Human | |
| 443 | Oa.IL25:IL-25(2) | 1 | 0 | Non-Human | |
| 444 | OCLN:occludin(1) | 1 | 0 | Annotation error | |
| 445 | Mg.NOD1 | 1 | 0 | Non-Human | |
| 446 | Cg.Hprt1:HGPRT(1) | 1 | 0 | Non-Human | |
| 447 | Ch.SLC11A1 | 1 | 0 | Non-Human | |
| 448 | LINC-ROR:ROR(1) | 1 | 0 | Annotation error | Relative odd ratios. |
| 449 | TRIM10 | 1 | 0 | Genetic evidence in a related disease | "28586827, for Parkinson Disease" |
| 450 | ARPC2 | 1 | 0 | Genetic evidence in a related disease | "18836448, associated with UC" |
| 451 | Oa.IL23R | 1 | 0 | Non-Human | |
| 452 | Oa.IL17RB | 1 | 0 | Non-Human | |
| 453 | Oa.IL12RB1 | 1 | 0 | Non-Human | |
| 454 | Oa.IL17RA | 1 | 0 | Non-Human | |
| 455 | ARL4A | 1 | 0 | Biologically related but no evidence of mutation | "A whole-genome microarray expression study further suggested that the Ala62Thr change in ZNF365 isoform D is related to differential expression of the genes ARL4A, MKKS, RRAGD, SUMF2, TDR1 and ZNF148 in CD." |
| 456 | RASGRP1 | 1 | 0 | Other evidences of genetic alterations | rs16967103 |
| 457 | LPCAT3:C3F(2) | 1 | 0 | Other evidences of genetic alterations | "Polymorphism of the third component of complement (C3), occupying a key position in cascade reactions. The results are compatible with a positive association of the C3F gene and Crohn's disease located in the small bowel. 6731047." |
| 458 | SLC25A15 | 1 | 0 | Annotation error | "23266558, SLC25A15-ELF1-WBP4 region on 13q14, within ELF1 gene" |
| 459 | RCL1 | 1 | 0 | Genetic evidence in related complications | "31235766, Variation of GMSI level" |
| 460 | TENM1:TNM(1) | 1 | 0 | Annotation error | kind of clasiffication |
| 461 | "TSHZ1:C, -863 C/A and -857 T/C(1)" | 1 | 0 | Annotation error | It is a mutation bases' change. |
| 462 | DDX39A:DDXL(1) | 1 | 0 | Negative evidence | No association to either UC or CD was found in three novel intronic single nucleotide polymorphisms (SNPs) in DDXL. |
| 463 | CDKN1A:p21(1) | 1 | 0 | Biologically related but no evidence of mutation | decrease of p21(WAF1/CIP1) expression may predispose the small-bowel mucosa to dysplasia and carcinoma development in Crohn disease. |
| 464 | LOC102723996:ICOS ligand(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 465 | TRAIP | 1 | 0 | Experimental evidence of variant | An intronic SNP rs1128535 in the TRAIP gene was associated with CD in the screening and validation cohorts. 18200509. |
| 466 | TNIP1 | 1 | 0 | Genetic evidence in a related disease | "22694930, associated with asthma Talking about other diseases." |
| 467 | IKZF1 | 1 | 0 | Unrelated | 29991969 |
| 468 | ?.:c.1377(1) | 1 | 0 | Non-Human | |
| 469 | ?.:c.1461(1) | 1 | 0 | Non-Human | |
| 470 | ?.:c)=0.002(1) | 1 | 0 | Non-Human | |
| 471 | HMG20A | 1 | 0 | Genetic evidence in a related disease | "27153721, T2D" |
| 472 | ?.:c.2462(1) | 1 | 0 | Non-Human | |
| 473 | ?.:C2722(1) | 1 | 0 | Non-Human | |
| 474 | ?.:Nucleotide-binding oligomerization domain-containing protein 1 and 2(1) | 1 | 0 | Non-Human | |
| 475 | ?.:C3435(1) | 1 | 0 | Non-Human | |
| 476 | PRG3 | 1 | 0 | Other evidences of genetic alterations | "22412388, from GWAS, intergenic" |
| 477 | RACK1 | 1 | 0 | Unrelated | |
| 478 | CDS1:CD's(1) | 1 | 0 | Annotation error | Crohn disease's patientes |
| 479 | CPQ:aminopeptidase(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 480 | ARIH2 | 1 | 0 | Genetic evidence in a related disease | "25671699 , for IBD in general" |
| 481 | TAB1:MAP3K7IP1(1) | 1 | 0 | GWAS evidence within gene | "20570966, from GWAS, within gene rs6001585" |
| 482 | MERTK | 1 | 0 | Biologically related but no evidence of mutation | |
| 483 | CLEC10A:MGL(1) | 1 | 0 | Negative evidence | "No association was found between our IBD cohort and the candidate SNPs for DC-SIGN (CD/HC: P=0.25 and UC/HC: P=0.36), DCIR (CD/HC: P=0.22 and UC/HC: P=0.41) and MGL (CD/HC: P=0.37 and UC/HC: P=0.25). 22664939." |
| 484 | CEBPA:C/EBP(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 485 | KAT5:HTATIP(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 486 | ATG7 | 1 | 0 | Biologically related but no evidence of mutation | "Recently identified genetic determinants for enhanced susceptibility to Crohn disease (CD) included polymorphisms in the ATG16L1 and IRGM1 loci suggesting that the autophagy pathway plays a role in the pathogenesis of this disease. In the mouse small intestine, one common cellular target of Atg16L1, Atg5 and Atg7 is the Paneth cell, a specialized epithelial cell whose main function is the delivery of antimicrobial factors into the intestinal lumen by production and secretion of its characteristic cytoplasmic granules." |
| 487 | ARL6IP5:Hp 2-2(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 488 | ARPC1A | 1 | 0 | Unrelated | |
| 489 | CTCF | 1 | 0 | Genetic evidence in a related disease | "19732864, asthma" |
| 490 | AVIL | 1 | 0 | Negative evidence | "12034507, No-disease associated sequence variations were detected in the AVIL gene in 24 patients showing linkage to chromosome 12, suggesting that it is not the susceptibility gene for IBD2." |
| 491 | "?.:beta-1,3(1)" | 1 | 0 | Non-Human | |
| 492 | ?.:T2104(1) | 1 | 0 | Non-Human | |
| 493 | MASP2:MASP-2(1) | 1 | 0 | Genetic evidence in a related disease | "31383674, tuberculosis" |
| 494 | ENTR1:SDCCAG3(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 495 | PPARGC1A | 1 | 0 | Biologically related but no evidence of mutation | "CSNPathway analysis identified seven candidate SNPs, nine pathways, which provided five hypothetical biological mechanisms. (...) Third, rs8172678 to PPARGC1A to cellular glucose homeostasis (nominal p<0.001, FDR=0.031)" |
| 496 | MALT1:MALT-1(1) | 1 | 0 | Biologically related but no evidence of mutation | IN GENERAL FOR IBDs: Mechanisms mediating TNFSF15:DR3 contributions to PRR outcomes included TACE-induced TNFSF15 cleavage to soluble TNFSF15; soluble TNFSF15 then led to TRADD/FADD/MALT-1- and caspase-8-mediated autocrine IL-1 secretion. |
| 497 | ADCY3 | 1 | 0 | Genetic evidence in a related disease | TYPE 2 DIABETES. |
| 498 | EHMT2:G9a(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 499 | COPS8:COP9(1) | 1 | 0 | Annotation error | is a protein complex not a gene |
| 500 | Mm.Selenos:SELS(2) | 1 | 0 | Non-Human | |
| 501 | SPINK5 | 1 | 0 | Unrelated | Talking about Type 1 diabetes. |
| 502 | IL24:IL-24(1) | 1 | 0 | Biologically related but no evidence of mutation | "29568200, expressed in a NOD-dependent manner" |
| 503 | Mm.Cdr3:complementarity determining region (CDR) 3(1) | 1 | 0 | Non-Human | |
| 504 | ADAM30 | 1 | 0 | Other evidences of genetic alterations | No results for ADAM30. |
| 505 | ADAMTS13 | 1 | 0 | Biologically related but no evidence of mutation | |
| 506 | RPP14:p14(1) | 1 | 0 | Biologically related but no evidence of mutation | "30989570, methylation a part of the name of a locus." |
| 507 | FGFR1OP | 1 | 0 | Biologically related but no evidence of mutation | |
| 508 | LlslI.yagA:L1007(1) | 1 | 0 | Non-Human | |
| 509 | CDC37 | 1 | 0 | Biologically related but no evidence of mutation | |
| 510 | CHI3L1:cartilage glycoprotein-39(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 511 | RASSF1:RASSF1A(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 512 | WBP4 | 1 | 0 | Annotation error | "23266558, SLC25A15-ELF1-WBP4 region on 13q14, within ELF1 gene" |
| 513 | CHEK2 | 1 | 0 | Annotation error | For breast cancer |
| 514 | CAVIN3:PRKCDBP(2) | 1 | 0 | Genetic evidence in a related disease | in UC |
| 515 | SP140 | 1 | 0 | GWAS evidence within gene | rs6716753 |
| 516 | HOGA1:NPL 2(1) | 1 | 0 | Annotation error | multipoint non-parametric linkage (NPL) |
| 517 | CHRNA5 | 1 | 0 | Genetic evidence in related complications | "29688464, A variant interacts with smoking to influence IBD-related surgery." |
| 518 | EXOSC6:P < 1.1(1) | 1 | 0 | Annotation error | |
| 519 | CLN3 | 1 | 0 | Other evidences of genetic alterations | "27153721, haplotypes" |
| 520 | CYP2R1 | 1 | 0 | Negative evidence | |
| 521 | COLCA2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 522 | NXPE1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 523 | CDYL2 | 1 | 0 | GWAS evidence within gene | "27569725, from GWAS, rs16953946" |
| 524 | ZPBP2 | 1 | 0 | Unrelated | |
| 525 | Mm.Cd4 | 1 | 0 | Non-Human | |
| 526 | CNP | 1 | 0 | Annotation error | This term means: Copy Number Polymorphism. |
| 527 | "H3C14:H3, and H4(1)" | 1 | 0 | Annotation error | |
| 528 | CNTF | 1 | 0 | Genetic evidence in related complications | "30801121, time-to-abdominal surgery" |
| 529 | OR2T4:odds ratio (OR) 1.60(1) | 1 | 0 | Annotation error | Odds Ratio |
| 530 | COL7A1 | 1 | 0 | Annotation error | |
| 531 | MBOAT2:LPAAT(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 532 | COMT | 1 | 0 | Biologically related but no evidence of mutation | |
| 533 | Mm.Dbil5:ELP(2) | 1 | 0 | Non-Human | |
| 534 | MAP3K8 | 1 | 0 | Experimental evidence of variant | "Taken together, the rs1042058 GG IBD-risk polymorphism in TPL2 results in a gain-of-function by increasing TPL2 expression and signalling, thereby amplifying PRR-initiated outcomes. 26215868." |
| 535 | SLCO6A1 | 1 | 0 | Other evidences of genetic alterations | Notable examples included TMEM183A and SLCO6A1 which exhibited strong evidence consistently in our WTCCC and both of the dbGaP SNP-SNP interaction analyses. 23071489. |
| 536 | ZNF300P1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 537 | CLDN4 | 1 | 0 | Negative evidence | "23946598, No associations were observed for the CLDN4 marker (rs8629; C allele frequency of 0.772 among controls), neither to IBD, CD nor UC." |
| 538 | CREB1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 539 | ATF2:ATF-2(2) | 1 | 0 | Biologically related but no evidence of mutation | "The most strongly CD risk-associated, non-coding DMBT1 SNP rs2981804 modifies the DNA binding sites for the transcription factors CREB1 and ATF-2 and the respective genomic region comprising rs2981804 is able to act as a transcriptional regulator in vitro." |
| 540 | CRHR1 | 1 | 0 | Genetic evidence in a related disease | parkinson disease |
| 541 | MACROD2 | 1 | 0 | Other evidences of genetic alterations | "We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. 22936669." |
| 542 | PARP1:poly(ADP-ribose) polymerase(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 543 | CSF1:M-CSF(1) | 1 | 0 | Annotation error | not a gene |
| 544 | CSF2RA | 1 | 0 | Genetic evidence in related complications | stricturing behavior |
| 545 | SLC2A14 | 1 | 0 | Genetic evidence in a related disease | Three alleles in the SLC2A14 gene associated independently with IBD. 28971850 Both UC and CD |
| 546 | ADRA1D:alpha-1(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 547 | CD300LF | 1 | 0 | Unrelated | Mutation in this gene related with psoriasis. |
| 548 | CCN2:CTGF(2) | 1 | 0 | Negative evidence | |
| 549 | CTNND2 | 1 | 0 | Annotation error | |
| 550 | PUS10 | 1 | 0 | GWAS evidence within gene | rs7608910 |
| 551 | CTSH | 1 | 0 | Biologically related but no evidence of mutation | |
| 552 | ASPRV1:SASP(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 553 | CYBA | 1 | 0 | Genetic evidence in related complications | "29454792, more aggressive disease course" |
| 554 | Mm.Hmmr:RHAMM(2) | 1 | 0 | Non-Human | |
| 555 | CYP2A6 | 1 | 0 | Experimental evidence of variant | "Ever smokers had an increased risk of CD (odds ratio = 3.88, 95% confidence interval = 2.35-6.39) compared with nonsmokers among patients with AG/AA genotypes at CYP2A6. 24651583." |
| 556 | Mm.Ighg1 | 1 | 0 | Non-Human | |
| 557 | CCDC122 | 1 | 0 | Genetic evidence in a related disease | talking about leprosy. |
| 558 | DAPK1:death-associated protein kinase 1(1) | 1 | 0 | Unrelated | Talking about colorectal cancer. |
| 559 | Mm.Il6:IL-6(1) | 1 | 0 | Non-Human | |
| 560 | Mm.Il6st:gp130(2) | 1 | 0 | Non-Human | |
| 561 | DBP | 1 | 0 | Annotation error | "Our study adds DBP to the list of potential genes that contribute to the complex genetic etiology of IBD, and further emphasizes the association between vitamin D homeostasis and intestinal inflammation. 21832969." |
| 562 | Mm.Itgb1 | 1 | 0 | Non-Human | |
| 563 | GADD45A | 1 | 0 | Unrelated | |
| 564 | DEFA3:HNP-3(1) | 1 | 0 | Unrelated | |
| 565 | OLIG3 | 1 | 0 | Unrelated | No relation with CD specifically. |
| 566 | DDX53:CAGE(1) | 1 | 0 | Annotation error | cap analysis of gene expression (CAGE) profiles |
| 567 | PSORS1C1:SEEK1(2) | 1 | 0 | Other evidences of genetic alterations | rs9264942 |
| 568 | DHCR7 | 1 | 0 | Negative evidence | |
| 569 | DIO1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 570 | Mm.Mlh1 | 1 | 0 | Non-Human | |
| 571 | DLAT:PBC and CD(1) | 1 | 0 | Annotation error | refers to primary biliary cirrhosis (PBC) and Crohn's diseases (CD) |
| 572 | DLG1 | 1 | 0 | Experimental evidence of variant | "24937328, c.374T>C (p.I125T), exome sequencing" |
| 573 | DNAH5 | 1 | 0 | Genetic evidence in a related disease | primary colorectal adenocarcinoma |
| 574 | Mm.Msh6 | 1 | 0 | Non-Human | |
| 575 | DNASE1:DNase I(1) | 1 | 0 | Annotation error | deoxyribonuclease I (DNase I) hypersensitive sites (D). |
| 576 | DNTT:TDT(1) | 1 | 0 | Annotation error | transmission disequilibrium test |
| 577 | SLC26A3 | 1 | 0 | Unrelated | No results for CD. |
| 578 | DRD2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 579 | TYMP | 1 | 0 | Genetic evidence in a related disease | Mitochondrial neurogastrointestinal encephalomyopathy |
| 580 | EDN1 | 1 | 0 | Biologically related but no evidence of mutation | "20188614, downregulated in CD cells" |
| 581 | AIF1 | 1 | 0 | Other evidences of genetic alterations | "We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. 22936669." |
| 582 | CELA1:pancreatic elastase 1(1) | 1 | 0 | Unrelated | |
| 583 | ELF1 | 1 | 0 | GWAS evidence within gene | "23266558, SLC25A15-ELF1-WBP4 region on 13q14, within ELF1 gene" |
| 584 | NLRP7 | 1 | 0 | Genetic evidence in a related disease | "29211899, with UC" |
| 585 | ?.:NOD1/2(1) | 1 | 0 | Non-Human | |
| 586 | UNC13D:MUNC13-4(1) | 1 | 0 | Unrelated | "No results for CD. Moreover, when the abstract talks about this gene, it is for a different disease." |
| 587 | DNAH12 | 1 | 0 | Experimental evidence of variant | "Our results confirmed a significant association of CD with the following previously reported risk loci: (...) DNAH12 (rs4462937, OR=1.13, p=3.17_10(-2)). 25731871." |
| 588 | NLRP11 | 1 | 0 | GWAS evidence within gene | "20403135, from gene-wide haplotype tagging approach, rs1363758" |
| 589 | EPHX1:microsomal epoxide hydrolase(2) | 1 | 0 | Unrelated | |
| 590 | EPO:erythropoietin(1) | 1 | 0 | Annotation error | the levels of erythropoietin |
| 591 | ERBB3 | 1 | 0 | Genetic evidence in a related disease | primary colorectal adenocarcinoma |
| 592 | EYA4 | 1 | 0 | Biologically related but no evidence of mutation | |
| 593 | Mm.Il23r | 1 | 0 | Non-Human | |
| 594 | ALB:Albumin(1) | 1 | 0 | Biologically related but no evidence of mutation | "We discovered new, previously unreported aging-associated proteomic traits (such as serum Albumin level), confirmed previously reported results from different tissues (i.e., upregulation of APOE with aging), and found loss of regulation of MMP7 in CD patients." |
| 595 | F2R | 1 | 0 | Negative evidence | |
| 596 | F2RL1 | 1 | 0 | Negative evidence | |
| 597 | FAAH | 1 | 0 | Genetic evidence in related complications | The FAAH p.Pro129Thr polymorphism may modulate the CD phenotype. 19053981. |
| 598 | Mm.Tlr4 | 1 | 0 | Non-Human | |
| 599 | MS4A2:FCER1B(1) | 1 | 0 | Unrelated | Talking about Type 1 diabetes. |
| 600 | FCGR1A:Fc-gamma receptor(1) | 1 | 0 | Treatment Response | FcgammaRIIIB polymorphisms may be an important factor for clinical response to IFX treatment in CD. |
| 601 | FCGRT:alpha-chain(2) | 1 | 0 | Annotation error | Alpha chain. |
| 602 | SDK1 | 1 | 0 | Genetic evidence in a related disease | primary colorectal adenocarcinoma |
| 603 | MMD2 | 1 | 0 | Other evidences of genetic alterations | "20570966, from GWAS rs4720435, linked to RADIL and MMD2, suggestive association" |
| 604 | DAGLB | 1 | 0 | Genetic evidence in related complications | "Specifically, it was associated with both CP and CDL in comparison with NCP (OR=3.2 and 4.3, respectively). Additionally, SNPs in NOX3 (rs6557421, rs12661812), DAGLB (rs836518) and NCF4 (rs8137602) were shown to be associated with pouch outcome with slightly weaker effects. 22879519." |
| 605 | SCUBE3 | 1 | 0 | Genetic evidence in related complications | significant association with serum Vit D levels in CD |
| 606 | FGF2:FGF-2(1) | 1 | 0 | Unrelated | |
| 607 | FGFR1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 608 | FGFR3 | 1 | 0 | Genetic evidence in a related disease | Familial acanthosis nigricans Seems not to be related with CD at all. The paper is talking about a different disease. |
| 609 | FGFR2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 610 | IKZF3 | 1 | 0 | Biologically related but no evidence of mutation | |
| 611 | PHLDA1 | 1 | 0 | Unrelated | No results for this gene. |
| 612 | ?.:NLRP1 and 2(1) | 1 | 0 | Non-Human | |
| 613 | ZHX2:RAF(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 614 | FKBP5 | 1 | 0 | Biologically related but no evidence of mutation | "The variation of FKBP5 polymorphism rs4713916 (G/A), in the putative promoter region of FKBP5, is significantly associated with resistance to GC treatment in CD (responder=17% versus resister=35%; P=0.0043)" |
| 615 | SBNO2 | 1 | 0 | Other evidences of genetic alterations | "We confirmed the association of 17 reported common susceptibility loci. Moreover, we found associations at eight additional loci: GCKR, ATG16L1, CDKAL1, ZNF365, LRRK2-MUC19, C13orf31, PTPN2, and SBNO2. 21351207." |
| 616 | KLRK1:NKG2D(1) | 1 | 0 | Unrelated | |
| 617 | SEP | 1 | 0 | Unrelated | "After adjustment for multiple testing, a significant interaction with serum selenium on CD was found for three SNPs, namely rs17529609 and rs7901303 in the gene SEP, and rs1553153 in the gene SEPSECS. These three SNPs have not been reported elsewhere as being significantly associated with selenium or CD. It is unclear as to whether lower selenium levels are a cause or an effect of the disease. 23112913." |
| 618 | MAPKBP1:JNKBP1(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 619 | FLG | 1 | 0 | Unrelated | |
| 620 | ATG2A | 1 | 0 | Genetic evidence in related complications | granuloma formation |
| 621 | OTUD3 | 1 | 0 | Genetic evidence in a related disease | "Three genetic loci were validated for significant association, and all were previously reported in Caucasians including the major histocompatibility complex region (top SNP, rs9271366; P = 1.03 _ 10(-18), odds ratio [OR] = 2.10), 16q24.1 (rs16940186; P = 4.39 _ 10(-10), OR = 1.56), and RNF186-OTUD3-PLA2G2E at chromosome arm 1p36.13 (top SNP, rs4654903 in OTUD3; P = 7.43 _ 10(-9), OR = 0.64). Although failed to reach genome-wide statistical significance. 23511034 For UC" |
| 622 | FMO3 | 1 | 0 | Negative evidence | |
| 623 | CUX2 | 1 | 0 | Genetic evidence in a related disease | Type 1 diabetes |
| 624 | DICER1 | 1 | 0 | Unrelated | |
| 625 | SLC39A14 | 1 | 0 | Unrelated | |
| 626 | FOS | 1 | 0 | Genetic evidence in a related disease | "FOS, UBE2L3, the JAK2 gene region, and rs1297265 at chromosome arm 21q21.1 likely play a role in both Crohn's disease and UC. 23511034 For both UC and CD" |
| 627 | CLEC5A | 1 | 0 | Biologically related but no evidence of mutation | "29568200, CD- and NOD2-associated genes of PBMCs (expression)" |
| 628 | NUP62:p62(1) | 1 | 0 | Unrelated | |
| 629 | LDOC1 | 1 | 0 | Biologically related but no evidence of mutation | "Because NOD2 signaling plays a key role in CD, it is important to further characterize the network of protein interacting with NOD2. Using yeast two hybrid (Y2H) screens, we identified new NOD2 interacting proteins (NIP). The primary interaction was confirmed by coimmunoprecipitation and/or bioluminescence resonance energy transfer (BRET) experiments for 11 of these proteins (ANKHD1, CHMP5, SDCCAG3, TRIM41, LDOC1, PPP1R12C, DOCK7, VIM, KRT15, PPP2R3B, and C10Orf67)." |
| 630 | CADM1 | 1 | 0 | Other evidences of genetic alterations | "20570966, from GWAS, intergenic rs2513676" |
| 631 | IL17RA | 1 | 0 | Other evidences of genetic alterations | "19235914, haplotypes" |
| 632 | ALK | 1 | 0 | Biologically related but no evidence of mutation | |
| 633 | ALOX5 | 1 | 0 | Other evidences of genetic alterations | "A haplotype comprising the 4 ALOX5 SNPs (TCAA, p_=_0.036) was associated with CD. 21187935." |
| 634 | Mm.Tlr2 | 1 | 0 | Non-Human | |
| 635 | Rn.Atp4a:HKa(1) | 1 | 0 | Non-Human | |
| 636 | Rn.Il1b:IL-1beta(1) | 1 | 0 | Non-Human | |
| 637 | Rn.Nos2:iNOS(1) | 1 | 0 | Non-Human | |
| 638 | MTOR | 1 | 0 | Biologically related but no evidence of mutation | |
| 639 | NR5A1:ELP(2) | 1 | 0 | Annotation error | |
| 640 | GAST:gastrin(1) | 1 | 0 | Annotation error | gastrin. |
| 641 | FUT4:CD15(1) | 1 | 0 | Unrelated | |
| 642 | ACKR1:DARC(1) | 1 | 0 | Unrelated | |
| 643 | FYB1:Fyb(1) | 1 | 0 | Unrelated | |
| 644 | FYN | 1 | 0 | Genetic evidence in a related disease | "24098138, DT1" |
| 645 | G6PC:G6PT(1) | 1 | 0 | Unrelated | |
| 646 | GAD2:GAD65(1) | 1 | 0 | Unrelated | |
| 647 | GAK | 1 | 0 | Genetic evidence in a related disease | "Parkinson disease, overlap with CD" |
| 648 | PRDX5 | 1 | 0 | Other evidences of genetic alterations | |
| 649 | PARM1 | 1 | 0 | Unrelated | Not related with CD. |
| 650 | SUMF2 | 1 | 0 | Biologically related but no evidence of mutation | "A whole-genome microarray expression study further suggested that the Ala62Thr change in ZNF365 isoform D is related to differential expression of the genes ARL4A, MKKS, RRAGD, SUMF2, TDR1 and ZNF148 in CD." |
| 651 | RCHY1:chimp(1) | 1 | 0 | Annotation error | |
| 652 | GALNT2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 653 | REXO2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 654 | AOC1:diamine oxidase(2) | 1 | 0 | Negative evidence | |
| 655 | MAGI3 | 1 | 0 | Experimental evidence of variant | "Our findings lend support to a genetic basis for modulation of intestinal epithelial barrier in IBD, and we have identified MAGI3 as a new candidate gene for IBD. 28545409." |
| 656 | FDCSP:C4orf7(1) | 1 | 0 | Unrelated | |
| 657 | HACL1:HPCL(1) | 1 | 0 | Annotation error | HPCL=HPLC (liquid chromathografy) |
| 658 | PRPF31:RP11(1) | 1 | 0 | Genetic evidence in related complications | |
| 659 | NAT9 | 1 | 0 | Unrelated | Mutation in this gene associated with psoriasis. |
| 660 | GATA3:GATA-3(1) | 1 | 0 | Biologically related but no evidence of mutation | "22457781," |
| 661 | GBA | 1 | 0 | Unrelated | |
| 662 | GC:vitamin D-binding protein(2) | 1 | 0 | Experimental evidence of variant | "On statistical analysis, we observed that the DBP 420 variant Lys is less frequent in IBD cases than in non-IBD controls (allele frequencies, P=0.034; homozygous carrier genotype frequencies, P=0.006). 21832969." |
| 663 | KAT2A | 1 | 0 | Genetic evidence in a related disease | and IBD and KAT2A rs730086. 26278503. |
| 664 | GDI1 | 1 | 0 | Other evidences of genetic alterations | "high accuracy for predicting Crohn's disease phenotype in Chromosome 5q31 and reveals novel cis-associations between two haplotype blocks in the ENm006 genomic region and GDI1, 17646299" |
| 665 | ?.:E2/E3(1) | 1 | 0 | Non-Human | |
| 666 | B3GAT1:CD57(1) | 1 | 0 | Annotation error | |
| 667 | CPAMD8 | 1 | 0 | Other evidences of genetic alterations | "22412388, from GWAS, intergenic rs6545946" |
| 668 | CHIA | 1 | 0 | Annotation error | |
| 669 | GLI1 | 1 | 0 | Negative evidence | |
| 670 | EML4 | 1 | 0 | Biologically related but no evidence of mutation | |
| 671 | ?.:Pc=0.007(1) | 1 | 0 | Non-Human | |
| 672 | ?.:Pc=0.009(1) | 1 | 0 | Non-Human | |
| 673 | ?.:Pc=0.005(1) | 1 | 0 | Non-Human | |
| 674 | ?.:Pc=0.015(1) | 1 | 0 | Non-Human | |
| 675 | ?.:Pc=1.10(-5(1) | 1 | 0 | Non-Human | |
| 676 | ?.:Pc=0.018(1) | 1 | 0 | Non-Human | |
| 677 | ?.:Pc=0.003(1) | 1 | 0 | Non-Human | |
| 678 | ?.:Pc=0.044(1) | 1 | 0 | Non-Human | |
| 679 | GOLGB1:GCP(2) | 1 | 0 | Annotation error | |
| 680 | Bt.TLR2 | 1 | 0 | Non-Human | |
| 681 | Bt.TLR4 | 1 | 0 | Non-Human | |
| 682 | ?.:TLR(1) | 1 | 0 | Non-Human | |
| 683 | PPP2R3B | 1 | 0 | Biologically related but no evidence of mutation | |
| 684 | SLCO3A1 | 1 | 0 | Experimental evidence of variant | "SLCO3A1, a novel CD-associated gene, mediates inflammatory processes in intestinal epithelial cells through NF-_B transcription activation, resulting in a higher incidence of bowel perforation in CD patients. 24945726." |
| 685 | Bt.TLR9 | 1 | 0 | Non-Human | |
| 686 | CCDC88B | 1 | 0 | Unrelated | Talking about sarcoidosis. |
| 687 | SLC39A5 | 1 | 0 | Unrelated | |
| 688 | ANGPT1 | 1 | 0 | Unrelated | No related with CD. |
| 689 | KANSL1 | 1 | 0 | Genetic evidence in a related disease | Parkinson disease |
| 690 | GSDMA | 1 | 0 | Unrelated | |
| 691 | IGHD3-10:DXP'1(1) | 1 | 0 | Unrelated | |
| 692 | GPER1:G protein-coupled estrogen receptor(1) | 1 | 0 | Unrelated | |
| 693 | GPT:alanine aminotransferase(1) | 1 | 0 | Annotation error | |
| 694 | IGKV7-3:B1 and vitamin B6(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 695 | ?.:B2/B3(1) | 1 | 0 | Non-Human | |
| 696 | CCDC22 | 1 | 0 | Unrelated | No results for CD. |
| 697 | ZBTB44 | 1 | 0 | Genetic evidence in related complications | stricturing behavior |
| 698 | SETD2:set 2(1) | 1 | 0 | Annotation error | Set 2 of families. |
| 699 | PYCARD:ASC(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 700 | BRD7 | 1 | 0 | Other evidences of genetic alterations | "23615072, haplotype" |
| 701 | Rn.Nod2 | 1 | 0 | Non-Human | |
| 702 | CXCL3 | 1 | 0 | Biologically related but no evidence of mutation | |
| 703 | GSN:gelsolin(1) | 1 | 0 | Annotation error | |
| 704 | GSPT1 | 1 | 0 | Negative evidence | The GGC(12) allele was present in 2.2% of colorectal cancer patients but was absent in Crohn disease patients and in the control group. |
| 705 | GSTA1 | 1 | 0 | Treatment Response | |
| 706 | GSTP1 | 1 | 0 | Genetic evidence in a related disease | Former smoking was associated with an increased risk for UC only in the presence of GG/AG genotypes for GSTP1. |
| 707 | Rn.Slc10a2:apical sodium-dependent bile acid transporter(1) | 1 | 0 | Non-Human | |
| 708 | Rn.Slc22a5:OCTN2(1) | 1 | 0 | Non-Human | |
| 709 | USP25 | 1 | 0 | Other evidences of genetic alterations | "We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 _ 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 _ 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 _ 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 _ 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 _ 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 _ 10, OR = 1.35), bringing the number of known CD loci. 25489960." |
| 710 | GUCY1A1:GUCY1A3(1) | 1 | 0 | Genetic evidence in a related disease | |
| 711 | ICOS | 1 | 0 | Biologically related but no evidence of mutation | |
| 712 | NPC1L1 | 1 | 0 | Unrelated | |
| 713 | IL19 | 1 | 0 | Other evidences of genetic alterations | refers to a genetic interaction model |
| 714 | GZMB:granzyme B(1) | 1 | 0 | Annotation error | Method to select lymphocytes. |
| 715 | Rn.Myd88 | 1 | 0 | Non-Human | |
| 716 | HCL2:Rha(1) | 1 | 0 | Annotation error | |
| 717 | HGD | 1 | 0 | Annotation error | high grade dysplasia. |
| 718 | PLA2G2E | 1 | 0 | Negative evidence | no results showed. |
| 719 | NRG1 | 1 | 0 | Genetic evidence in a related disease | "Several genes were mutated more frequently or uniquely in tumors from patients with IBD, including SOX9 and EP300 (which encode proteins in the WNT pathway), NRG1 (which encodes an ERBB ligand), and IL16 (which encodes a cytokine)." |
| 720 | HLA-A | 1 | 0 | Unrelated | Taking about HIV. |
| 721 | Rn.Tlr2 | 1 | 0 | Non-Human | |
| 722 | "?.:HLA-A, -B and -DRB1(1)" | 1 | 0 | Non-Human | |
| 723 | ?.:HLA-B and TNFalpha(1) | 1 | 0 | Non-Human | |
| 724 | HLA-DOA:HLA DOA(1) | 1 | 0 | Genetic evidence in related complications | |
| 725 | HLA-DPA1 | 1 | 0 | Negative evidence | |
| 726 | HLA-DQA2 | 1 | 0 | Experimental evidence of variant | "Our results confirmed a significant association of CD with the following previously reported risk loci: HLA-DQA2 (rs3208181, OR=1.36, p=4.66_10(-6)). 25731871." |
| 727 | HLA-DRB6:MHC class II antigen(1) | 1 | 0 | Annotation error | |
| 728 | Rn.Fos:c-fos(2) | 1 | 0 | Non-Human | |
| 729 | HMMR:RHAMM(2) | 1 | 0 | Unrelated | |
| 730 | HNRNPA1:hnRNP-A1(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 731 | HNRNPD | 1 | 0 | Experimental evidence of variant | "We report the presence of discordant and rare damaging mutation in HNRNPD and other risk polymorphisms such as, rs12103, rs2241880, rs3810936, rs7076156, rs1042058 and rs1292053. (...) The identified risk polymorphisms were found conferring susceptibility to CD and IBD. 28300425." |
| 732 | HPRT1 | 1 | 0 | Unrelated | |
| 733 | AIRE | 1 | 0 | Biologically related but no evidence of mutation | |
| 734 | Mm.Tnfsf15:TL1A(2) | 1 | 0 | Non-Human | |
| 735 | 1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 736 | 2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 737 | BIRC3:cIAP2(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 738 | A1L | 1 | 0 | Experimental evidence of variant | Our results indicate that de novo and rare mutations in A1L are associated with IBD and provide insights into the pathogenesis of IBD. 28126021. |
| 739 | 90AA1:90(2) | 1 | 0 | Annotation error | "Taking about the protein, no interest in this context." |
| 740 | D1:65(1) | 1 | 0 | Unrelated | |
| 741 | TNC:tenascin-C(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 742 | APOB | 1 | 0 | Unrelated | |
| 743 | ?.:JM109(1) | 1 | 0 | Non-Human | |
| 744 | IDH2 | 1 | 0 | Unrelated | No results for this gene. |
| 745 | Dm.Toll-4:TLR4(1) | 1 | 0 | Non-Human | |
| 746 | AQP8 | 1 | 0 | Unrelated | |
| 747 | IFNA4 | 1 | 0 | Experimental evidence of variant | We identified heterozygous IFNA10 and IFNA4 variants as a cause of impaired function and CD susceptibility genes in Chinese patients from multiple center based study. 26000985. |
| 748 | Dm.STUB1:dChip(1) | 1 | 0 | Non-Human | |
| 749 | IFNA10 | 1 | 0 | Experimental evidence of variant | We identified heterozygous IFNA10 and IFNA4 variants as a cause of impaired function and CD susceptibility genes in Chinese patients from multiple center based study. 26000985. |
| 750 | IFNA17:Inf alpha(1) | 1 | 0 | Unrelated | |
| 751 | Dm.Dlg5 | 1 | 0 | Non-Human | |
| 752 | IGF1 | 1 | 0 | Unrelated | |
| 753 | IGHG1 | 1 | 0 | Unrelated | |
| 754 | IL2RB | 1 | 0 | GWAS evidence within gene | IL2RB SNPs genotyped (rs743776) was significantly associated with CD. 23972291 |
| 755 | IL2RG | 1 | 0 | Unrelated | |
| 756 | IL3 | 1 | 0 | Unrelated | Several 5q31-region SNPs strongly associated with Crohn's disease (CD) in the recent WTCCC study were not significant in the psoriasis sample sets tested here. 18614543 |
| 757 | CXCR2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 758 | ?.:IL17A/F(1) | 1 | 0 | Non-Human | |
| 759 | ING1:p47(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 760 | INS:insulin(1) | 1 | 0 | Unrelated | |
| 761 | Rn.Il27:rIL-27(1) | 1 | 0 | Non-Human | |
| 762 | ITGAX | 1 | 0 | Negative evidence | "Also, several established SLE loci are apparently not associated with other ADs, including the ITGAM-ITGAX and TNFSF4 regions" |
| 763 | ITGB2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 764 | ITGB3:GPIIIa(2) | 1 | 0 | Unrelated | |
| 765 | Dr.ripk2 | 1 | 0 | Non-Human | |
| 766 | KIF5A | 1 | 0 | Unrelated | Type 1 diabetes. |
| 767 | KIR2DL4:KIR(1) | 1 | 0 | Biologically related but no evidence of mutation | Our data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112. |
| 768 | KIR2DS1 | 1 | 0 | Biologically related but no evidence of mutation | Our data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112. |
| 769 | KIR2DS5 | 1 | 0 | Biologically related but no evidence of mutation | Our data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112. |
| 770 | KIR3DS1 | 1 | 0 | Biologically related but no evidence of mutation | Our data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112. |
| 771 | KIT:CD117(1) | 1 | 0 | Annotation error | innate lymphoid cells not a gene |
| 772 | KLRB1:CD161(1) | 1 | 0 | Biologically related but no evidence of mutation | "CD161 is a new surface marker for human interleukin (IL)-17-producing Th17 cells. The Th17 phenotype has been linked to CD by the fact that IL-22, IL-17 and IL-23 receptor levels are increased in CD." |
| 773 | Mm.Crtc1:mTORC1(2) | 1 | 0 | Non-Human | |
| 774 | KPNA1 | 1 | 0 | Unrelated | |
| 775 | KRT7:keratin 7(1) | 1 | 0 | Unrelated | Related with adenocarcinoma (hist. marker). |
| 776 | ?.:K8/K18(1) | 1 | 0 | Non-Human | |
| 777 | KRT15 | 1 | 0 | Biologically related but no evidence of mutation | |
| 778 | NPSR1 | 1 | 0 | Genetic evidence in a related disease | "for IBD in general, haplotypes" |
| 779 | LAG3 | 1 | 0 | Unrelated | Talking about different diseases. |
| 780 | OR4N2:odds ratio (OR) 1.48(1) | 1 | 0 | Annotation error | |
| 781 | OR4K8P:odds ratio (OR) 1.81(1) | 1 | 0 | Annotation error | |
| 782 | OR10K1:OR 1.6(1) | 1 | 0 | Annotation error | |
| 783 | OR10R3P:odds ratio (OR) 1.9(1) | 1 | 0 | Annotation error | |
| 784 | LAMP1 | 1 | 0 | Unrelated | |
| 785 | RPSA:LRP(1) | 1 | 0 | Unrelated | |
| 786 | LCN2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 787 | LDLR:FHC(1) | 1 | 0 | Negative evidence | The paper is not talking about CD. |
| 788 | LEP | 1 | 0 | Annotation error | A method not a gene |
| 789 | Gg.FN1:fibronectin(1) | 1 | 0 | Non-Human | |
| 790 | Gg.TNC:tenascin-C(2) | 1 | 0 | Non-Human | |
| 791 | LIF | 1 | 0 | Unrelated | No results for this gene. |
| 792 | IL17REL | 1 | 0 | Biologically related but no evidence of mutation | |
| 793 | LPL | 1 | 0 | Annotation error | hypertriglyceridemia (LPL) |
| 794 | Clf.TLR4 | 1 | 0 | Non-Human | |
| 795 | LRP1 | 1 | 0 | Genetic evidence in a related disease | primary colorectal adenocarcinoma |
| 796 | LRP6 | 1 | 0 | Biologically related but no evidence of mutation | "In addition, we confirmed a direct relationship between LRP6 activity and the transcriptional expression of HD-5 using transient transfection. Taken together, we identified LRP6 as a new candidate gene in ileal CD." |
| 797 | LINC01194:T-A-G(1) | 1 | 0 | Annotation error | T-A-G is not a gene. |
| 798 | LTB:lymphotoxin beta(1) | 1 | 0 | Unrelated | |
| 799 | CYP4F3 | 1 | 0 | Negative evidence | No associations with the remaining 4 CYP4F3 SNPs with CD were evident |
| 800 | LTF | 1 | 0 | Biologically related but no evidence of mutation | |
| 801 | SH2D1A | 1 | 0 | Unrelated | |
| 802 | MIRLET7E:Let-7e(1) | 1 | 0 | Biologically related but no evidence of mutation | this can be attributed to a loss of binding capacity for the microRNAs (miRNAs) Let-7e and Let-7f by the variant allele. |
| 803 | MIR106B | 1 | 0 | Biologically related but no evidence of mutation | |
| 804 | MIR122 | 1 | 0 | Genetic evidence in related complications | "We showed for the first time that polymorphisms in MIR122, MIR196A2, and MIR124A could play a role in clinical phenotype modulation in IBD. 27718165." |
| 805 | MIR124-1:MIR124A(2) | 1 | 0 | Genetic evidence in related complications | "We showed for the first time that polymorphisms in MIR122, MIR196A2, and MIR124A could play a role in clinical phenotype modulation in IBD. 27718165." |
| 806 | MIR148A:miR-148a(1) | 1 | 0 | Annotation error | Is a microRNA not a gene. |
| 807 | MIR155:miR-155(1) | 1 | 0 | Biologically related but no evidence of mutation | miR-155 was upregulated in Crohn's disease patients with NOD2 mutations |
| 808 | MIR192:miR-192(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 809 | MIR21 | 1 | 0 | Biologically related but no evidence of mutation | |
| 810 | MIR221:miR-221(2) | 1 | 0 | Negative evidence | |
| 811 | MIR224:miR-224(2) | 1 | 0 | Negative evidence | |
| 812 | MIR31:miR-31(1) | 1 | 0 | Unrelated | |
| 813 | MIR9-3:MIR93(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 814 | ?.:SMAD2/4(1) | 1 | 0 | Non-Human | |
| 815 | ?.:SMAD(2) | 1 | 0 | Non-Human | |
| 816 | SMAD7 | 1 | 0 | Genetic evidence in a related disease | For UC |
| 817 | MCAM | 1 | 0 | Biologically related but no evidence of mutation | |
| 818 | MDM2 | 1 | 0 | Other evidences of genetic alterations | "We report on a gender-specific protective effect of the low-apoptotic SNP72 CC genotype, and a gender-unrestricted genotypic interaction between SNP309 TT and SNP72 CC, which, for the first time, links sequence variation of the p53/mdm2 network to CD. 20110711." |
| 819 | MEF2C | 1 | 0 | Unrelated | |
| 820 | MAP3K1:MEKK1(1) | 1 | 0 | GWAS evidence within gene | "18521924, missense variant rs832582" |
| 821 | MGAT3 | 1 | 0 | Biologically related but no evidence of mutation | 29991969 |
| 822 | MLN:motilin(2) | 1 | 0 | Experimental evidence of variant | "A polymorphism of second exon of the motilin gene, leading to a protein variant, is significantly more frequent in the subset of ANCA-positive CD patients. 9558024." |
| 823 | MMP1:matrix metalloproteinases (MMP)-1(1) | 1 | 0 | Genetic evidence in related complications | The 5T5T genotype at MMP-3 SNP -1613 5T/6T increased the chance of stenotic complications in CD during follow-up. 17589947 |
| 824 | MMP3:MMP-3(1) | 1 | 0 | Genetic evidence in related complications | The 5T5T genotype at MMP-3 SNP -1613 5T/6T increased the chance of stenotic complications in CD. 17589947. |
| 825 | MMP7 | 1 | 0 | Biologically related but no evidence of mutation | "Found loss of regulation of MMP7 in CD patients. In carrying out a genome wide genotype-protein association study (proteomic Quantitative Trait Loci, pQTL) within the CD patients, we identified 41 distinct proteomic traits influenced by cis pQTLs (underlying SNPs are referred to as pSNPs). Significant overlaps between pQTLs and cis eQTLs corresponding to the same gene were observed and in some cases the QTL were related to inflammatory disease susceptibility." |
| 826 | MMP9:MMP-9(1) | 1 | 0 | Genetic evidence in related complications | |
| 827 | MMP10 | 1 | 0 | Genetic evidence in a related disease | |
| 828 | MPG:AAG(1) | 1 | 0 | Annotation error | AAG nucleotides |
| 829 | MPO | 1 | 0 | Unrelated | |
| 830 | MS:Multiple Sclerosis(1) | 1 | 0 | Annotation error | a disease not a gene |
| 831 | MSMB:MSP(1) | 1 | 0 | Annotation error | "Here we report the experimental characterization of a proposed causal single nucleotide polymorphism (SNP) in a locus related to risk of Crohn's disease and ulcerative colitis (...) Together, the studies indicate that the missense SNP impairs MSP function by reducing its affinity to RON and perhaps through a secondary effect on in vivo concentration arising from reduced thermodynamic stability, resulting in down-regulation of the MSP/RON signaling pathway. 22087277. * THIS GENE REFER TO MST1 *, MST1 is correctly marked as experimental evidence. While MSMB is not." |
| 832 | Clf.TLR2 | 1 | 0 | Non-Human | |
| 833 | MT2A:MT2(1) | 1 | 0 | Negative evidence | |
| 834 | MT3 | 1 | 0 | Negative evidence | |
| 835 | COX2:COX-2(1) | 1 | 0 | Genetic evidence in a related disease | for both CD and UC |
| 836 | ND1 | 1 | 0 | Negative evidence | "There was no association between ND1 + 32656 and IBD in our panel. There was no heterogeneity between UC and CD, nor within the CD subgroup when conditioned by subphenotype or the presence of NOD2 variants." |
| 837 | MTR:Methionine synthase(2) | 1 | 0 | Genetic evidence in a related disease | Methionine synthase 2756G allele frequency was higher in ulcerative colitis than in controls 0.15. 18700049. |
| 838 | MUC2 | 1 | 0 | Experimental evidence of variant | Allelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD. 17058067. |
| 839 | MUC3A | 1 | 0 | Experimental evidence of variant | Our findings suggest that variants of MUC3A may be involved in the occurrence of UC and CD in distinct manners. 11289722. |
| 840 | MUC4 | 1 | 0 | Genetic evidence in a related disease | "MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC." |
| 841 | MMUT:Mut(1) | 1 | 0 | Annotation error | |
| 842 | MUTYH | 1 | 0 | Unrelated | |
| 843 | MX1:MxA(1) | 1 | 0 | Unrelated | |
| 844 | MYD88 | 1 | 0 | Unrelated | |
| 845 | NDUFB3:B12(2) | 1 | 0 | Annotation error | vitamin B12. |
| 846 | NFE2:NF-E2(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 847 | NFIL3:E4BP4(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 848 | NFKB2 | 1 | 0 | Unrelated | |
| 849 | NFKBIL1:IKBL(2) | 1 | 0 | Negative evidence | "In addition, no significant interactions between the -94ins/delATTG NFKB1 polymorphism and polymorphisms within the IKBL and the IL-1RN genes, respectively, were found in CD or UC" |
| 850 | NKX3-1:NKX2-3(1) | 1 | 0 | Other evidences of genetic alterations | "17554261, from GWAS, intergenic, rs10883365" |
| 851 | NOS3 | 1 | 0 | Negative evidence | NOS3 polymorphisms do not play a major role in IBD predisposition. |
| 852 | NOTCH4 | 1 | 0 | Unrelated | |
| 853 | Clf.NOD2 | 1 | 0 | Non-Human | |
| 854 | Clf.CTNND2 | 1 | 0 | Non-Human | |
| 855 | Clf.ADAMTS16 | 1 | 0 | Non-Human | |
| 856 | NSF | 1 | 0 | Biologically related but no evidence of mutation | |
| 857 | TNFRSF11B | 1 | 0 | Negative evidence | |
| 858 | OPRM1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 859 | OR3A1:OR 4.0(1) | 1 | 0 | Annotation error | |
| 860 | OSM | 1 | 0 | Biologically related but no evidence of mutation | |
| 861 | P2RX7:P2X7 receptor(1) | 1 | 0 | Negative evidence | "In conclusion, the analysed intragenetic variants of the P2X(7) receptor may not be a susceptibility factor for CD." |
| 862 | G0S2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 863 | NOX3 | 1 | 0 | Genetic evidence in a related disease | """Chronic diseasee like"" genetically associated with worse effects." |
| 864 | IL21R:IL21 receptor(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 865 | PAPPA:PAPA(2) | 1 | 0 | Annotation error | "The PAPA syndrome, an acronym for pyogenic sterile arthritis, pyoderma gangraenosum and acne" |
| 866 | KCNK4 | 1 | 0 | Unrelated | Talking about sarcodiosis. |
| 867 | AK3 | 1 | 0 | Biologically related but no evidence of mutation | "31235766, RCL1 variants are in LD and affect expression of AK3 (p 2.00E-68 to 3.03E-55)" |
| 868 | F11R | 1 | 0 | Unrelated | No results for F11R. |
| 869 | CLEC4A:DCIR(1) | 1 | 0 | Negative evidence | "No association was found between our IBD cohort and the candidate SNPs for DC-SIGN (CD/HC: P=0.25 and UC/HC: P=0.36), DCIR" |
| 870 | HEBP1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 871 | PBX2 | 1 | 0 | Unrelated | |
| 872 | FIS1 | 1 | 0 | Biologically related but no evidence of mutation | "NOD2 might be involved in a series of pathways such as epigenetic regulation of expression (via TLE1 and HTATIP), biosynthesis of mucin (via GALNT2), apoptosis (via PPP2R5E and FIS1)," |
| 873 | SEPSECS | 1 | 0 | Unrelated | "After adjustment for multiple testing, a significant interaction with serum selenium on CD was found for three SNPs, namely rs17529609 and rs7901303 in the gene SEP, and rs1553153 in the gene SEPSECS. These three SNPs have not been reported elsewhere as being significantly associated with selenium or CD. 23112913." |
| 874 | TRNT1 | 1 | 0 | Unrelated | |
| 875 | SH3GLB1 | 1 | 0 | Unrelated | |
| 876 | PHF11:PHF-11(1) | 1 | 0 | Genetic evidence in related complications | vit D levels |
| 877 | SLC45A2 | 1 | 0 | Unrelated | Talking about other diseases. |
| 878 | TIMMDC1 | 1 | 0 | GWAS evidence within gene | "27812365, from GWAS intron variant, rs2293370" |
| 879 | PDE2A | 1 | 0 | GWAS evidence within gene | "27812365, from GWAS, intron variant, rs3781913" |
| 880 | WNT16 | 1 | 0 | Unrelated | |
| 881 | SUCO:CH1(1) | 1 | 0 | Unrelated | |
| 882 | SFMBT1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 883 | CHMP5 | 1 | 0 | Biologically related but no evidence of mutation | |
| 884 | ?.:IL-23/IL-17(1) | 1 | 0 | Non-Human | |
| 885 | WWOX | 1 | 0 | Annotation error | variant is fromRP11 but is close (LD) with WWOX |
| 886 | PGA5 | 1 | 0 | Unrelated | |
| 887 | PLA2G1B:phospholipase A2(1) | 1 | 0 | Biologically related but no evidence of mutation | "HD-5, PLA2 and lysozyme transcript levels were strongly increased in AS and CD with similar degrees of intestinal inflammation when compared with normal controls." |
| 888 | PLA2G2A | 1 | 0 | Biologically related but no evidence of mutation | |
| 889 | PLA2G4A | 1 | 0 | Unrelated | |
| 890 | Bt.CLEC7A | 1 | 0 | Non-Human | |
| 891 | BCL11A | 1 | 0 | Biologically related but no evidence of mutation | |
| 892 | UBASH3A | 1 | 0 | Genetic evidence in a related disease | Primary sclerosing cholangitis (PSC) |
| 893 | PLEK:p47(2) | 1 | 0 | Negative evidence | |
| 894 | POMC | 1 | 0 | Unrelated | This gene was used to compare methylation level. |
| 895 | PON1 | 1 | 0 | Genetic evidence in a related disease | for IBD in general |
| 896 | PON2 | 1 | 0 | Genetic evidence in a related disease | for IBD in general |
| 897 | UGT1A7 | 1 | 0 | Negative evidence | "However, there was no association between NAT2 haplotypes and UC, or between any UGT1A7 haplotypes and inflammatory bowel disease (IBD)." |
| 898 | IL17RD | 1 | 0 | Other evidences of genetic alterations | "19235914, haplotypes" |
| 899 | PPP1R12C | 1 | 0 | Biologically related but no evidence of mutation | |
| 900 | DYM:dymeclin(1) | 1 | 0 | Genetic evidence in related complications | There was a significant association between growth impairment in CD (height-for-age Z-score < -1.64) and a stature-related polymorphism in the dymeclin gene DYM (rs8099594). 20846217. |
| 901 | FNBP1L | 1 | 0 | Genetic evidence in related complications | granuloma formation |
| 902 | ANKHD1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 903 | RNF43 | 1 | 0 | Unrelated | |
| 904 | MARCHF1:March 1(1) | 1 | 0 | Annotation error | |
| 905 | BANK1 | 1 | 0 | Negative evidence | No significant association in the BANK1 and CLEC2D genes was observed |
| 906 | HEATR3 | 1 | 0 | Other evidences of genetic alterations | "23615072, haplotype" |
| 907 | MOCOS | 1 | 0 | Biologically related but no evidence of mutation | |
| 908 | FEZF2:MALDI-TOF(1) | 1 | 0 | Annotation error | matrix-assisted laser desorption/ionization time-of-flight |
| 909 | RAVER2 | 1 | 0 | Negative evidence | None of these RAVER2 SNPs were associated with CD and APS susceptibility. |
| 910 | PPP2R5E | 1 | 0 | Biologically related but no evidence of mutation | |
| 911 | BOLA2 | 1 | 0 | Genetic evidence in a related disease | Parkinson disease |
| 912 | FBXW7 | 1 | 0 | Unrelated | |
| 913 | PRG2 | 1 | 0 | Other evidences of genetic alterations | "22412388, from GWAS intergenic rs11229030" |
| 914 | ITLN1 | 1 | 0 | GWAS evidence within gene | rs2274910 |
| 915 | PRKAA1:LKB1-AMP activated protein kinase(1) | 1 | 0 | Unrelated | |
| 916 | AMBRA1 | 1 | 0 | Unrelated | No results for AMBRA1 |
| 917 | SLC39A4 | 1 | 0 | Biologically related but no evidence of mutation | |
| 918 | INAVA:C1orf106(1) | 1 | 0 | GWAS evidence within gene | rs7554511 |
| 919 | EXOC2 | 1 | 0 | Other evidences of genetic alterations | "20570966, from GWAS (intergenic) rs7768444, suggestive association" |
| 920 | AXL | 1 | 0 | Unrelated | |
| 921 | SELENOS:SELS(2) | 1 | 0 | Negative evidence | |
| 922 | PRKCQ | 1 | 0 | GWAS evidence within gene | "30828974, from GWAS, missense variant, rs2236379" |
| 923 | PRKCZ:Protein kinase C zeta(1) | 1 | 0 | Unrelated | |
| 924 | Dr.lrrk2 | 1 | 0 | Non-Human | |
| 925 | SULF2 | 1 | 0 | Genetic evidence in related complications | Stricturing CD |
| 926 | MAPK7:Erk5(1) | 1 | 0 | Unrelated | |
| 927 | EIF2AK2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 928 | PRNP:prion proteins(2) | 1 | 0 | Annotation error | not a gene |
| 929 | MRAP:B27(1) | 1 | 0 | Unrelated | |
| 930 | MASP1:MASP(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 931 | PRTN3:c-ANCA(1) | 1 | 0 | Annotation error | "PRTN3 doesn_t appear. c-ANCA is a marker, not a gene." |
| 932 | CYP26B1 | 1 | 0 | Genetic evidence in related complications | "non-stricturing, non-penetrating phenotype" |
| 933 | INPP5E | 1 | 0 | Biologically related but no evidence of mutation | Not specificated if mutations have been reported and in which disease specifically. |
| 934 | B2M:beta2-microglobulin(1) | 1 | 0 | Unrelated | Was used as a DNA quality control. |
| 935 | PSMD3 | 1 | 0 | Unrelated | |
| 936 | CD177:cell-surface receptor(1) | 1 | 0 | Annotation error | |
| 937 | LYRM4 | 1 | 0 | Genetic evidence in a related disease | for UC |
| 938 | SMURF1 | 1 | 0 | Genetic evidence in related complications | "30801121, time-to-abdominal surgery" |
| 939 | TTC7A:TTC7(1) | 1 | 0 | Genetic evidence in a related disease | "and mutations in NCF2, XIAP, LRBA, and TTC7 have been identified in VEO-IBD, polymorphisms in these genes are also associated with increased risk of developing IBD in adolescence or adulthood." |
| 940 | KIR2DL5A:KIR2DL5(1) | 1 | 0 | Biologically related but no evidence of mutation | Inhibitory KIR2DL5 was found more frequently in UC and IBD patient groups than in healthy controls. |
| 941 | Bt.TLR1 | 1 | 0 | Non-Human | |
| 942 | MIR495:miR-495(1) | 1 | 0 | Annotation error | MIR495 is a micro-RNA not a gene. |
| 943 | MIR499A:MIR499(1) | 1 | 0 | Negative evidence | We did not find associations between mir polymorphisms and IBD susceptibility. |
| 944 | MAVS | 1 | 0 | Biologically related but no evidence of mutation | |
| 945 | COG6 | 1 | 0 | Biologically related but no evidence of mutation | It is said that the polymorphisms cited in this paper were reported in many different diseases but they do not say that the polymorphism for COG6 is specific for CD. |
| 946 | HACE1 | 1 | 0 | Genetic evidence in a related disease | Celiac disease |
| 947 | MIB1 | 1 | 0 | Unrelated | |
| 948 | KIAA1614 | 1 | 0 | Genetic evidence in related complications | Stricturing CD |
| 949 | ?.:PTPN2/22(1) | 1 | 0 | Non-Human | |
| 950 | PTPN6 | 1 | 0 | Genetic evidence in a related disease | "These results suggest the involvement of the ZAP70 and PTPN6 genes in the genetic component conferring a general susceptibility to CD and UC, respectively." |
| 951 | PTPN11 | 1 | 0 | Negative evidence | |
| 952 | ZNF410:Apa-1(1) | 1 | 0 | Unrelated | It's a variant and no results were found. |
| 953 | MUC3B | 1 | 0 | Biologically related but no evidence of mutation | |
| 954 | RRAGD | 1 | 0 | Biologically related but no evidence of mutation | "Ala62Thr change in ZNF365 isoform D is related to differential expression of the genes ARL4A, MKKS, RRAGD, SUMF2, TDR1 and ZNF148 in CD." |
| 955 | RAF1 | 1 | 0 | Genetic evidence in a related disease | "24098138, DT1" |
| 956 | RAG2 | 1 | 0 | Unrelated | Seems not to be related. |
| 957 | IL22RA1:IL-22R1(1) | 1 | 0 | Genetic evidence in related complications | Tuberculosis and CD |
| 958 | ACTA2 | 1 | 0 | Biologically related but no evidence of mutation | "In stenotic areas in patients with CD, TRPC6, ACTA2 (smooth muscle _-actin), CDH2 (N-cadherin), COL1A1, IL-10, and IL-11 were significantly increased." |
| 959 | RANBP2 | 1 | 0 | Unrelated | |
| 960 | RAP1A | 1 | 0 | Other evidences of genetic alterations | "30500874, rs488200, upstream" |
| 961 | REL:c-Rel(1) | 1 | 0 | Other evidences of genetic alterations | rs10181042 |
| 962 | RELB | 1 | 0 | Unrelated | ....but not RelB or c-Rel. |
| 963 | RFC1 | 1 | 0 | Unrelated | |
| 964 | TRIM27 | 1 | 0 | Biologically related but no evidence of mutation | "We found that TRIM27 expression is increased in Crohn's disease patients, underscoring a physiological role of TRIM27 in regulating NOD2 signaling" |
| 965 | RNASE3:eosinophil cationic protein(1) | 1 | 0 | Other evidences of genetic alterations | Haplotypes. Maier curve showed a difference between haplotype distributions for the females with CD (P = 0.003). |
| 966 | LDAH:C2orf43(1) | 1 | 0 | Genetic evidence in a related disease | |
| 967 | RPL7 | 1 | 0 | Other evidences of genetic alterations | "22412388, from GWAS, intergenic rs12677663" |
| 968 | DEFA1A3 | 1 | 0 | Unrelated | |
| 969 | BDKRB1:B1 receptor(2) | 1 | 0 | Experimental evidence of variant | "The gene corresponding to the B1 receptor for kinins may be a nonetiologic marker of symptomatic IBD, as suggested by the altered prevalence of a polymorphism presumably affecting its regulation. 9797354." |
| 970 | BDKRB2:B2 receptor(1) | 1 | 0 | Negative evidence | |
| 971 | RXRA:Retinoid X receptor(1) | 1 | 0 | Unrelated | |
| 972 | S100A1:S100(1) | 1 | 0 | Unrelated | |
| 973 | S100A8:p 8(1) | 1 | 0 | Annotation error | |
| 974 | S100A10:P<10(1) | 1 | 0 | Annotation error | |
| 975 | SAA1:serum amyloid A protein(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 976 | SLC22A23 | 1 | 0 | GWAS evidence within gene | "Homozygocity for single-nucleotide polymorphisms rs4959235-TT and rs950318-GG was associated with IBD, whereby 6% of patients (18 of 311 cases) carried these genotypes, but they were not seen in healthy controls. 24740203." |
| 977 | CCL3:macrophage inflammatory protein 1 alpha(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 978 | CCL5:RANTES(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 979 | CCL7 | 1 | 0 | Other evidences of genetic alterations | "20570966, from GWAS, CCL2/CCL7 locus rs991804" |
| 980 | CCL11 | 1 | 0 | Genetic evidence in a related disease | |
| 981 | CCL17 | 1 | 0 | Negative evidence | Genotyping of one SNP from each linkage disequilibrium group in a large cohort of families with inflammatory bowel disease did not provide convincing evidence of association with either Crohn's disease or ulcerative colitis. |
| 982 | CCL22 | 1 | 0 | Negative evidence | Genotyping of one SNP from each linkage disequilibrium group in a large cohort of families with inflammatory bowel disease did not provide convincing evidence of association with either Crohn's disease or ulcerative colitis. |
| 983 | SDC1:Syndecan-1(1) | 1 | 0 | Unrelated | |
| 984 | Rn.d1:65(1) | 1 | 0 | Non-Human | |
| 985 | SDHB:SDH(1) | 1 | 0 | Unrelated | |
| 986 | SELE:E-selectin(2) | 1 | 0 | Negative evidence | |
| 987 | ARHGEF28:Rip2(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 988 | CXCR5 | 1 | 0 | Other evidences of genetic alterations | "26084578 from GWAS, intergenic rs6421571, nominally associated" |
| 989 | NFKBIZ:IKBZ(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 990 | MT1IP:MT1(1) | 1 | 0 | Negative evidence | |
| 991 | CLEC7A:dectin-1(2) | 1 | 0 | Biologically related but no evidence of mutation | "Our data demonstrate that dectin-1 expression is elevated on macrophages, neutrophils, and other immune cells involved in the inflammatory reaction in IBD." |
| 992 | IL25:interleukin-25(1) | 1 | 0 | Negative evidence | "our data indicate that genetic alterations in the coding regions of the IL-25 gene are unlikely to play a role in IBDs, but the c424C/A polymorphism in the IL-25 gene should be investigated for a potential association with other chronic inflammatory and inherited disorders such as autoimmune diseases." |
| 993 | BMP2 | 1 | 0 | Unrelated | |
| 994 | NDRG4 | 1 | 0 | Biologically related but no evidence of mutation | |
| 995 | PINK1 | 1 | 0 | Unrelated | |
| 996 | BMP3 | 1 | 0 | Biologically related but no evidence of mutation | |
| 997 | SMTN:smoothelin(1) | 1 | 0 | Unrelated | |
| 998 | SLC6A4 | 1 | 0 | Negative evidence | |
| 999 | SLC15A1 | 1 | 0 | Experimental evidence of variant | "The common allele (C) of a coding polymorphism (rs2297322, Ser117Asn) was associated with CD susceptibility both in Sweden and in Finland, but with genetic effects in opposite directions (risk and protection, respectively). A functional polymorphism in the SLC15A1 gene might be of relevance to inflammation and antibacterial responses in IBD. 19462432." |
| 1000 | SNCA | 1 | 0 | Unrelated | |
| 1001 | FSCN1:fascin(1) | 1 | 0 | Unrelated | |
| 1002 | SNRPC:U1C(1) | 1 | 0 | Unrelated | |
| 1003 | SOX2:SOX-2(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1004 | Mm.Lrrk2 | 1 | 0 | Non-Human | |
| 1005 | SPP1 | 1 | 0 | Other evidences of genetic alterations | "22242114, haplotype" |
| 1006 | BRCA1:BRCA-1(1) | 1 | 0 | Unrelated | |
| 1007 | TRIM21:Ro52(1) | 1 | 0 | Unrelated | |
| 1008 | RO60 | 1 | 0 | Unrelated | |
| 1009 | BRCA2 | 1 | 0 | Unrelated | |
| 1010 | ST2 | 1 | 0 | Genetic evidence in a related disease | UC |
| 1011 | STAT1 | 1 | 0 | Unrelated | |
| 1012 | SULT1E1 | 1 | 0 | Unrelated | |
| 1013 | STK11:LKB1(1) | 1 | 0 | Unrelated | |
| 1014 | TAC1:substance P(1) | 1 | 0 | Annotation error | |
| 1015 | TADA2A:ADA*2(1) | 1 | 0 | Biologically related but no evidence of mutation | ASK VT! |
| 1016 | TAP1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1017 | TAP2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1018 | BTK | 1 | 0 | Unrelated | without identified mutations had SD before prophylactic treatment. |
| 1019 | "?.:TFF1, 2 and 3(1)" | 1 | 0 | Non-Human | |
| 1020 | ?.:TFF1 and 3(1) | 1 | 0 | Non-Human | |
| 1021 | TFF2 | 1 | 0 | Unrelated | |
| 1022 | TFF3 | 1 | 0 | Unrelated | |
| 1023 | TGFBR2:TGFbeta RII(1) | 1 | 0 | Negative evidence | "1 patient with Crohn's disease (14%), but mutations in the transforming growth factor beta type II receptor (TGFbeta RII) gene were absent." |
| 1024 | TIMP2:TIMP-2(1) | 1 | 0 | Genetic evidence in related complications | favorable disease recurrence |
| 1025 | TJP1 | 1 | 0 | Biologically related but no evidence of mutation | "Furthermore, association between inflammation and decreased expression levels of MAGI3, PTEN, and TJP1 in colonic IBD as well as UC mucosa, and between inflammation and increased expression of PTPN22 in colonic IBD mucosa, was observed." |
| 1026 | TLE1 | 1 | 0 | GWAS evidence within gene | Single-nucleotide polymorphisms within TLE1 were associated with susceptibility to CD. 21699783. |
| 1027 | "?.:Toll-like receptor-1, -2, and -6(1)" | 1 | 0 | Non-Human | |
| 1028 | ?.:TLR2/1(1) | 1 | 0 | Non-Human | |
| 1029 | ?.:Toll-like receptor 2/4(1) | 1 | 0 | Non-Human | |
| 1030 | TSPAN8 | 1 | 0 | Unrelated | Talking about type 2 diabetes. |
| 1031 | TNFAIP6 | 1 | 0 | Treatment Response | "Following genotyping, differences between responders and nonresponders to IFX were observed in haplotypes of the studied regions: S100A8-S100A9 (rs11205276* G/rs3014866* C/rs724781* C/rs3006488* A; P = 0.05); G0S2 (rs4844486* A/rs1473683* T; P = 0.15); TNFAIP6 (rs11677200* C/rs2342910* A/rs3755480* G/rs10432475* A; P = 0.10); and IL11 (rs1126760* C/rs1042506* G; P = 0.07). These differences were amplified in patients with colonic and ileocolonic location for all but the TNFAIP6 haplotype, which evidenced significant difference in ileal CD patients." |
| 1032 | ?.:TNFRSF1A and 1B(1) | 1 | 0 | Non-Human | |
| 1033 | TNXB | 1 | 0 | Unrelated | |
| 1034 | C3:complement C3(1) | 1 | 0 | Other evidences of genetic alterations | The results are compatible with a positive association of the C3F gene and Crohn's disease located in the small bowel. 6731047. |
| 1035 | TRAF6 | 1 | 0 | Negative evidence | nor was this polymorphism related to specific clinical features in IBD. |
| 1036 | CCT3:CCTG(2) | 1 | 0 | Annotation error | a motif not a gene They are deoxyribonucleotides. |
| 1037 | TRPC4 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1038 | TRPC6 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1039 | TRPM2 | 1 | 0 | GWAS evidence within gene | "23615072, R755C, nominal association" |
| 1040 | C4BPB | 1 | 0 | Biologically related but no evidence of mutation | |
| 1041 | C5AR1:C5a(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1042 | NPIPB8 | 1 | 0 | Other evidences of genetic alterations | "27153721, haplotype" |
| 1043 | TXK:Tyrosine Kinase(1) | 1 | 0 | Other evidences of genetic alterations | rs6837335 |
| 1044 | TYRO3 | 1 | 0 | Unrelated | |
| 1045 | UBA7 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1046 | UCP2 | 1 | 0 | Experimental evidence of variant | "the UCP2 -866 G/A polymorphism was associated with SLE, WG, CD and UC. 19387457." |
| 1047 | NR1H2 | 1 | 0 | Genetic evidence in a related disease | LXR T-rs1405655-C and T-rs2695121-C variant genotypes were associated with risk of IBD. 21245992. IBDs IN GENERAL!! |
| 1048 | VCAM1:VCAM-1(1) | 1 | 0 | Unrelated | |
| 1049 | VIP | 1 | 0 | Annotation error | database |
| 1050 | WFS1 | 1 | 0 | Unrelated | Mutated in other diseases. |
| 1051 | WNT3 | 1 | 0 | Genetic evidence in a related disease | |
| 1052 | WNT5A:Wnt 5a(1) | 1 | 0 | Annotation error | Wnt 5a is a phenotype. |
| 1053 | WNT7B | 1 | 0 | Unrelated | |
| 1054 | WNT10B | 1 | 0 | Unrelated | |
| 1055 | XDH | 1 | 0 | Unrelated | Related with leukopenia. |
| 1056 | XPC | 1 | 0 | Genetic evidence in a related disease | squamous cell carcinoma of head and neck (SCCHN). |
| 1057 | XPO1 | 1 | 0 | Genetic evidence in related complications | Stricturing CD |
| 1058 | YY1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1059 | MZF1 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1060 | CA2:CAC(1) | 1 | 0 | Annotation error | colitis associated cancer |
| 1061 | MIR671:miR-671(1) | 1 | 0 | Annotation error | micro RNA |
| 1062 | ZNF133 | 1 | 0 | Treatment Response | infliximab |
| 1063 | Mm.Atg16l1 | 1 | 0 | Non-Human | |
| 1064 | ZNF148 | 1 | 0 | Biologically related but no evidence of mutation | "A whole-genome microarray expression study further suggested that the Ala62Thr change in ZNF365 isoform D is related to differential expression of the genes ARL4A, MKKS, RRAGD, SUMF2, TDR1 and ZNF148 in CD." |
| 1065 | CACNA1E | 1 | 0 | Genetic evidence in related complications | stricturing |
| 1066 | Dr.nod2 | 1 | 0 | Non-Human | |
| 1067 | IL1R2:IL-1R2(1) | 1 | 0 | Unrelated | |
| 1068 | VKORC1 | 1 | 0 | Biologically related but no evidence of mutation | "Mutation analysis identified a Val66Met substitution in vitamin K epoxide reductase complex subunit 1 (VKORC1), consistent with severe warfarin resistance." |
| 1069 | GGCT:GGC(2) | 1 | 0 | Annotation error | deoxyribonucleotides |
| 1070 | PRRC2A:BAT2(1) | 1 | 0 | Unrelated | |
| 1071 | OR5H5P:OR 3.3(1) | 1 | 0 | Annotation error | |
| 1072 | PGBD5 | 1 | 0 | Unrelated | |
| 1073 | FAT4 | 1 | 0 | Genetic evidence in a related disease | primary colorectal adenocarcinoma |
| 1074 | VTCN1 | 1 | 0 | Unrelated | Talking about SLE. |
| 1075 | MORC4 | 1 | 0 | GWAS evidence within gene | "23946598, snp association, rs6622126, missense variant" |
| 1076 | GSDMD:gasdermin-D(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1077 | PIP4K2C | 1 | 0 | Unrelated | "They talk about this gene because they are trying to associate it with T1 diabetes. It is a SNP from an autoimmune disease, but it is not mentionated from what specifically." |
| 1078 | HDAC11 | 1 | 0 | Unrelated | They are not studying this gene for CD. |
| 1079 | CNTNAP3 | 1 | 0 | Biologically related but no evidence of mutation | Talking about upregulations in CD related pathways. |
| 1080 | SPG11 | 1 | 0 | Unrelated | |
| 1081 | ADAM33 | 1 | 0 | Unrelated | Talking about Type 1 diabetes. |
| 1082 | NPL:NPL 1(1) | 1 | 0 | Annotation error | multipoint non-parametric linkage (NPL) |
| 1083 | TUBB1 | 1 | 0 | Unrelated | This gen is used to provide an example for a different disease. |
| 1084 | TSPAN14 | 1 | 0 | Genetic evidence in related complications | "30801121, time-to-abdominal surgery" |
| 1085 | CDR3 | 1 | 0 | Annotation error | |
| 1086 | MAP1LC3B:LC3B(1) | 1 | 0 | Unrelated | |
| 1087 | VMP1 | 1 | 0 | Biologically related but no evidence of mutation | Epigenetics. |
| 1088 | MKKS | 1 | 0 | Biologically related but no evidence of mutation | "A whole-genome microarray expression study further suggested that the Ala62Thr change in ZNF365 isoform D is related to differential expression of the genes ARL4A, MKKS, RRAGD, SUMF2, TDR1 and ZNF148 in CD." |
| 1089 | EPX | 1 | 0 | Experimental evidence of variant | "Polymorphisms of EPX and ECP are associated to IBD in an age and gender dependent manner, suggesting an essential role of eosinophils in the pathophysiology of IBD. 23197886." |
| 1090 | "?.:caspase-3, -6, and -7(1)" | 1 | 0 | Non-Human | |
| 1091 | ATG10 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1092 | PLA2G10:sPLA2(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1093 | TMPRSS13:Mspl(1) | 1 | 0 | Unrelated | Resuts for HRas gene. |
| 1094 | CASP10 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1095 | HPS3 | 1 | 0 | Unrelated | "In a long term they are talking about CD (long, long term) although they do not obtain positive evidences of mutations." |
| 1096 | CUL2 | 1 | 0 | Genetic evidence in a related disease | for IBD in general |
| 1097 | MT4 | 1 | 0 | Negative evidence | |
| 1098 | CASR | 1 | 0 | Unrelated | "However, it remains unclear if there is a link between FHH, Kabuki syndrome and Crohn disease in this case." |
| 1099 | OGT | 1 | 0 | Annotation error | |
| 1100 | ATG4D | 1 | 0 | Genetic evidence in related complications | granuloma formation |
| 1101 | USP45 | 1 | 0 | Unrelated | |
| 1102 | IKBKG:NEMO(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1103 | CYP4F2 | 1 | 0 | GWAS evidence within gene | "CYP4F2 SNPs, rs3093158 (OR (recessive)_=_0.56, 95% CI_=_0.35-0.89; p_=_0.01), rs2074902 (OR (trend)_=_1.26, 95% CI_=_1.00-1.60; p_=_0.05), and rs2108622 (OR (recessive)_=_1.6, 95% CI_=_1.00-2.57; p_=_0.05) were significantly associated whereas rs1272 (OR (recessive)_=_0.58, 95% CI_=_0.30-1.13; p_=_0.10) showed suggestions for associations with CD. A haplotype comprising these 4 SNPs was significantly associated (p_=_0.007, permuted p_=_0.02) with CD. 21187935." |
| 1104 | DOCK7 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1105 | AP3B1:ADTB3A(1) | 1 | 0 | Negative evidence | "Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative." |
| 1106 | FCN3:H-ficolin(1) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1107 | TNFSF11:RANKL(1) | 1 | 0 | Other evidences of genetic alterations | rs2062305 |
| 1108 | RUNX1T1:CD-R(1) | 1 | 0 | Annotation error | First degree relatives |
| 1109 | RUNX3 | 1 | 0 | Negative evidence | no association of RUNX3 haplotypes with either UC or CD was found |
| 1110 | SOCS1:suppressor of cytokine signaling-1(1) | 1 | 0 | Annotation error | |
| 1111 | BECN1 | 1 | 0 | Biologically related but no evidence of mutation | "Specific protein-protein interactions and post-translational modifications such as ubiquitination of IRGM, lead to a co-assembly with IRGM of the key autophagy regulators ULK1 and BECN1 in their activated forms." |
| 1112 | TRADD | 1 | 0 | Biologically related but no evidence of mutation | Mechanisms mediating TNFSF15:DR3 contributions to PRR outcomes included TACE-induced TNFSF15 cleavage to soluble TNFSF15; soluble TNFSF15 then led to TRADD/FADD/MALT-1- and caspase-8-mediated autocrine IL-1 secretion. |
| 1113 | ?.:MG-132(1) | 1 | 0 | Non-Human | |
| 1114 | TNFRSF14 | 1 | 0 | Unrelated | |
| 1115 | FADD | 1 | 0 | Biologically related but no evidence of mutation | Mechanisms mediating TNFSF15:DR3 contributions to PRR outcomes included TACE-induced TNFSF15 cleavage to soluble TNFSF15; soluble TNFSF15 then led to TRADD/FADD/MALT-1- and caspase-8-mediated autocrine IL-1 secretion. |
| 1116 | TNFRSF10B:DR5(2) | 1 | 0 | Other evidences of genetic alterations | mutant genotype (CT+TT) of DR5 (rs1047266) may exert a negative synergistic effect on CD. 26418999. |
| 1117 | SUCLA2 | 1 | 0 | Unrelated | FOR LEUKOPENIA |
| 1118 | IL18R1 | 1 | 0 | Unrelated | It is for asthma. |
| 1119 | GGH | 1 | 0 | Negative evidence | "No significant differences in the allele frequencies between CD, UC and healthy controls were detected." |
| 1120 | CCN6:LIBC(1) | 1 | 0 | Unrelated | |
| 1121 | IER3 | 1 | 0 | Unrelated | |
| 1122 | SQSTM1 | 1 | 0 | Unrelated | "For this gene, they are not talking about CD." |
| 1123 | BSN | 1 | 0 | Genetic evidence in a related disease | for IBD in general |
| 1124 | P4HA2 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1125 | MAP3K14 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1126 | SOCS3:suppressor of cytokine signaling 3(1) | 1 | 0 | Biologically related but no evidence of mutation | "they abrogated IL-10R1 phosphorylation induced by IL-10, therefore leading to impaired STAT3 activation and suppression of inflammatory responses. After reconstitution with wild-type IL-10R1, the patient cells showed fully restored IL-10R function including IL-10-induced STAT3 activation and expression of suppressor of cytokine signaling 3." |
| 1127 | CCRL2:HCR(1) | 1 | 0 | Unrelated | Other diseases are being studied. |
| 1128 | CLDN2 | 1 | 0 | Other evidences of genetic alterations | "23946598, from linkage analysis rs12014762, CDLN2-MORC4 region We have shown that PTPN2 protects epithelial barrier function by restricting the capacity of IFN-_ to increase epithelial permeability and prevent induction of expression of the pore-forming protein, claudin-2. These data identify an important functional role for PTPN2 as a protector of the intestinal epithelial barrier and provide clues as to how PTPN2 mutations may contribute to the pathophysiology of CD." |
| 1129 | CLDN1 | 1 | 0 | Genetic evidence in a related disease | "23946598, associated to IBD in general" |
| 1130 | PYGO2 | 1 | 0 | Genetic evidence in a related disease | for IBD in general |
| 1131 | CD1A | 1 | 0 | Unrelated | |
| 1132 | TRIM41 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1133 | CD2 | 1 | 0 | Unrelated | |
| 1134 | CD3D | 1 | 0 | Unrelated | |
| 1135 | CD247 | 1 | 0 | Unrelated | Talking about SLE. |
| 1136 | ZNF300 | 1 | 0 | Unrelated | Zinc finger protein |
| 1137 | MTA2:PID(1) | 1 | 0 | Annotation error | primary immunodeficiencies (PIDs) |
| 1138 | IL32:IL-32(2) | 1 | 0 | Biologically related but no evidence of mutation | |
| 1139 | TMEM183A | 1 | 0 | Biologically related but no evidence of mutation | |
| 1140 | CD9:CD44v8/9(1) | 1 | 0 | Unrelated | |
| 1141 | REEP6:DP1L1(2) | 1 | 0 | Experimental evidence of variant | DP1L1 polymorphisms are associated with colon cancer and IBD. This indicates that DP1L1 plays a functional role in these conditions. Thus DP1L1 may be a diagnostic and therapeutic target for colon cancer and IBD. 19924442 |
| 1142 | ?.:CD14dimCD16(1) | 1 | 0 | Non-Human | |
| 1143 | VAMP3 | 1 | 0 | Other evidences of genetic alterations | rs2797685 |
| 1144 | PPT2 | 1 | 0 | Unrelated | |
| 1145 | FOXP2 | 1 | 0 | Other evidences of genetic alterations | "We also found suggestive evidence for the association of the IFNGR2 (21q22.11), FOXP2 (7q31), MACROD2 (20p12.1) and AIF1 (6p21.3) loci with CD risk. 22936669." |
| 1146 | CD28:CD(28)(1) | 1 | 0 | Annotation error | Type of lymphocyte. |
| 1147 | TNFRSF8:CD30(1) | 1 | 0 | Unrelated | |
| 1148 | NCR2:NKp44(1) | 1 | 0 | Annotation error | innate lymphoid cells not a gene |
| 1149 | CD33:p67(1) | 1 | 0 | Biologically related but no evidence of mutation | This variant reduced binding of the NCF2 gene product p67(phox) to RAC2. This study found a novel genetic association of RAC2 with Crohn's disease (CD) and replicated the previously reported association of NCF4 with ileal CD. |
| 1150 | EIF2AK3:PERK(2) | 1 | 0 | Unrelated | |
| 1151 | ARHGEF6 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1152 | TMEM59 | 1 | 0 | Biologically related but no evidence of mutation | This defect impairs the capacity of the motif-containing transmembrane molecule TMEM59 to induce the unconventional autophagic labeling of the same single-membrane vesicles where this protein is located. |
| 1153 | CIR1:CIR(1) | 1 | 0 | Annotation error | cirrhotic patients. |
| 1154 | CXCL14 | 1 | 0 | Biologically related but no evidence of mutation | |
| 1155 | CLOCK | 1 | 0 | Annotation error | clock gene (related with circadian cyclus). |
| 1156 | TRAF4 | 1 | 0 | Biologically related but no evidence of mutation | "A novel motif in the Crohn's disease susceptibility protein, NOD2, allows TRAF4 to down-regulate innate immune responses." |
| 1157 | CLCA2 | 1 | 0 | GWAS evidence within gene | "We replicated the association of 4 loci with different Crohn's disease phenotypes. Variants in MAGI1, CLCA2, 2q24.1, and LY75 loci were associated with a complicated stricturing disease course. 25557950." |
| 1158 | CD59:min(-1(1) | 1 | 0 | Annotation error | |
| 1159 | LPIN2:LPIN 2(1) | 1 | 0 | Unrelated | |
| 1160 | TBKBP1 | 1 | 0 | Unrelated | frontotemporal dementia (FTD) |
| 1161 | ELMO1 | 1 | 0 | Unrelated | "In the subphenotype analysis, rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 _ 10(-5), OR: 2.59) associated with pediatric UC and CD, respectively." |
| 1162 | MED24 | 1 | 0 | Unrelated | |
| 1163 | LRBA | 1 | 0 | Genetic evidence in a related disease | "mutations in NCF2, XIAP, LRBA, and TTC7 have been identified in VEO-IBD, polymorphisms in these genes are also associated with increased risk of developing IBD in adolescence or adulthood. 28551707. IT IS NOT SPECIFIED IN WHICH IBD THESE SNPS were demonstrated." |
| 1164 | FC2 | 1 | 0 | Unrelated | No results for CD. |
| 1165 | RBM19 | 1 | 0 | Unrelated | |
| 1166 | SEC16A | 1 | 0 | Biologically related but no evidence of mutation | |
| 1167 | PUM3:PUFA(1) | 1 | 0 | Annotation error | |
| 1168 | SLC23A1 | 1 | 0 | GWAS evidence within gene | A genetic variant (rs10063949-G) in the SLC23A1 ascorbate transporter locus was identified and is associated with an increased risk of CD in a white Canadian IBD cohort. 24284447. |
| 1169 | NR1H4 | 1 | 0 | Genetic evidence in a related disease | for IBD in general |
| 1170 | RBX1 | 1 | 0 | Other evidences of genetic alterations | rs4820425 |
| 1171 | ?.:N-acetyl transferase (NAT) 1 and 2(1) | 1 | 0 | Non-Human | |
| 1172 | ?.:Unassociated(456) | -456 | 9.9 | Non-Human |
The data shown here is supplementary for the research publication A systematic review of genes associated with Crohn’s Disease identified more than 120 related genes. LIST OF AUTHORS. PMID:XXXXX.
Abstract
Crohn’s Disease (CD) is one of the two categories of inflammatory bowel diseases characterized by affecting the gastrointestinal tract. Common symptoms of CD include abdominal pain, fever, diarrhea and bleeding. A genetic component seems to be related to at least 8-12% of the patients. Several genes related to CD risk have been identified using several methods such as linkage-based studies, candidate gene association studies, and lately genome-wide association studies (GWAS) and sequencing. Nevertheless, to our knowledge, an updated compendium or consensus of the current genes is lacking. Therefore, we conducted a systematic review curating all possible CD-related genes classifying the genetic evidence reported in the scientific literature followed by functional genomics analyses. For this, we retrieved and analyzed 1,857 abstracts related to genetic variations in CD from the PubMed repository comprising 747 human genes. Then, each gene was categorized whether or not the reported genetic alteration confirms association to CD and their level of evidence. We found 124 genes categorized as associated to CD risk. From these, 46 genes were categorized as highly confidence non-specific genetic alterations, mainly from GWAS studies. Additionally, we also found 18 genes associated with response to treatment, 15 genes associated with disease sub-phenotype, and 39 genes associated with genetic alterations in related diseases. Bioinformatic analysis of the 124 genes support their importance in CD and highlight genes associated to specific aspects such as symptoms, drugs, and comorbidities. Importantly, most genes were not reported in ClinVar neither included in commercial genetic panels suggesting than Crohn´s disease is being genetically underdiagnosed. In conclusion, we curated and annotated 747 genes of which 177 showed evidence for some level of association to diagnosis, treatment response, or disease complications.
Abstract
Crohn’s Disease (CD) is one of the two categories of inflammatory bowel diseases characterized by affecting the gastrointestinal tract. Common symptoms of CD include abdominal pain, fever, diarrhea and bleeding. A genetic component seems to be related to at least 8-12% of the patients. Several genes related to CD risk have been identified using several methods such as linkage-based studies, candidate gene association studies, and lately genome-wide association studies (GWAS) and sequencing. Nevertheless, to our knowledge, an updated compendium or consensus of the current genes is lacking. Therefore, we conducted a systematic review curating all possible CD-related genes classifying the genetic evidence reported in the scientific literature followed by functional genomics analyses. For this, we retrieved and analyzed 1,857 abstracts related to genetic variations in CD from the PubMed repository comprising 747 human genes. Then, each gene was categorized whether or not the reported genetic alteration confirms association to CD and their level of evidence. We found 124 genes categorized as associated to CD risk. From these, 46 genes were categorized as highly confidence non-specific genetic alterations, mainly from GWAS studies. Additionally, we also found 18 genes associated with response to treatment, 15 genes associated with disease sub-phenotype, and 39 genes associated with genetic alterations in related diseases. Bioinformatic analysis of the 124 genes support their importance in CD and highlight genes associated to specific aspects such as symptoms, drugs, and comorbidities. Importantly, most genes were not reported in ClinVar neither included in commercial genetic panels suggesting than Crohn´s disease is being genetically underdiagnosed. In conclusion, we curated and annotated 747 genes of which 177 showed evidence for some level of association to diagnosis, treatment response, or disease complications.
