Systematic Review of Crohn's Disease Genes

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#GeneAbstractsLvlCategoryNotes
1NOD27519.9Experimental evidence of variantMutations in CARD15 have recently been found in patients with Crohn disease (CD). 11875755
2TNF1569.9Experimental 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"
3IL23R1489.9Experimental 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"
4ATG16L11289.9Experimental evidence of variantWe found a genetic interaction between reference SNP (rs)2241880 (ATG16L1) (...) in CD. 24247223
5TLR4889.9Experimental evidence of variantWe have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649
6IL10869.9Experimental 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."
7SLC22A4739.9Experimental 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."
8IRGM609.9Experimental evidence of variantWe found a genetic interaction between reference SNP (rs)2241880 (ATG16L1) and rs10065172 (IRGM) in CD. 24247223
9IBD5549.9Other evidences of genetic alterations"IBD5 is a locus, not a gene (obviously, many genes on this locus are mutated for IBDs)"
10SLC22A5509.9Experimental evidence of variantG-->C transversion in the SLC22A5 promoter) form a haplotype associated with susceptibility to Crohn disease. 15107849.
11TNFSF15459.9Experimental evidence of variantThis effect of -358T/C on the transcriptional activity in stimulated T cells may confer susceptibility to CD. 19124533
12NOD1419.9Experimental evidence of variant"Taken from the paper: three common CD associated NOD2 variants (Arg702Trp, Gly908Arg and the fsinsC1007). 15790594."
13IL6410.3Experimental evidence of variantMales with IL-6-174GG genotype are prone to develop CD at a younger age than males with the IL-6-174G --> C genotype. 19934771.
14TPMT419.9Treatment 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."
15IL1B403.9Experimental evidence of variantThese 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.
16STAT3379.9Experimental 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"
17NFKB1369.9Experimental 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."
18CRP351.6Annotation error"CRP is a protein, not a gene (C-reactive prontein). Anyway, the levels of this protein, seem to be related with the disease."
19DLG5359.9Experimental evidence of variantWe found a significant difference in association of the 113A DLG5 variant with Crohn disease. 15107852.
20IL12B349.9Experimental evidence of variantOur genetic association study revealed that the polymorphisms of IL12B rs6887695 were associated with both CD. 25761185.
21KRAS339.9Experimental 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"
22ABCB1339.9Experimental 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."
23TP53330Biologically 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."
24PTPN22319.9Experimental 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."
25IL17A309.9Biologically related but no evidence of mutationThe 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.
26IL1RN299.9Experimental 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"
27IL23A289.9Experimental 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."
28CD14289.9Experimental 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."
29CXCL8271.7Genetic 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)."
30TLR2269.9Treatment 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."
31HLA-DRB1259.9Other evidences of genetic alterationsThese results indicated that both of HLA-DRB1 and TNFA promoter polymorphisms contribute to the susceptibility to CD in an independent manner. 15626888.
32PTPN2249.9Experimental 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."
33NELFCD:Th1(22)224.9Annotation errorTH means t helper (lymphocytes)
34BRAF226.7Biologically related but no evidence of mutationMutations are very common in related diseases.
35VDR229.9Other 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"
36IL10RA209.9Experimental evidence of variant"2 novel mutations affecting the IL10RA gene (c.T192G, p.Tyr64 and c.T133G, p.Trp45Gly). 25373860."
37MEFV209.9Experimental 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"
38NLRP3199.9Experimental evidence of variantWe suggest a role for combined polymorphisms in CARD8 and NALP3 in the development of CD in men. 19319132.
39LRRK2199.9GWAS 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."
40F5:factor V Leiden(19)199.9Biologically related but no evidence of mutationThe 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.
41MTHFR199.1Genetic 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."
42CTLA4188.3Genetic evidence in a related diseaseThe A+49G variant of the CTLA4 gene was not an independent determinant to inflammatory bowel disease 21519805
43IL4181Experimental 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"
44INSC189.9Annotation error"insC is not a gene ""insertion C"" (cytosine)."
45NKX2-3179.9Experimental evidence of variantWe 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
46MLH1179.4Other evidences of genetic alterationsComparisons of MLH1 exon 15/D3S1611 haplotypes of Crohn's colitis and patients with ulcerative colitis were significant (p = 0.037).
47ICAM1162.2Experimental 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."
48IFNG160Experimental 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."
49TLR9169.9Experimental 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."
50CARD8149.9UnrelatedTalking about colorectal cancer.
51XIAP149.8Experimental 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."
52IL2140Genetic evidence in a related disease"Thus the gene encoding IL-2 may contribute to UC susceptibility, 19201773"
53JAK2144.9Experimental evidence of variantData 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_
54STAT4149.9GWAS 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."
55TNFRSF1A148Experimental evidence of variantThese 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.
56IL18124.2Experimental 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"
57MBL2129.4Other evidences of genetic alterationsThe 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.
58MSH2126.4Unrelated"HNPCC is a disease, not a gene-->Annotation Error! MSH-2 (MutS Homolog): Talking about people with different pathologies."
59SLC11A1129.9Experimental evidence of variant"For the first time, a strong association was observed between polymorphisms at NRAMP1 locus 823C/T and CD. 17131479."
60RIPK2129.9Other evidences of genetic alterationsrs7015630
61FCGR3A113.1Treatment Response"Crohn's disease patients with FCGR3A-158 V/V genotype have a better biological and, possibly, clinical response to infliximab."
62IL37:interleukin-23(8)119.9Annotation errorAssociations 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.
63HLA-B112.1Other 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"
64NCF4119.9Experimental 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."
65CD4119.9Annotation errorAnnotation Error -->CD4 is a cell type.
66CCR5103.2Experimental 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."
67LACC1109.9Other 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."
68FUT2109.9Experimental evidence of variantwhereas an association was observed between the FUT2 polymorphism and Crohn's disease susceptibility. 24268527.
69MST1109.9Experimental 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."
70IL22:IL-22(11)107.1Biologically related but no evidence of mutation
71FOXP3102Biologically related but no evidence of mutation
72CARD9109.9Experimental 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)109.9Non-Human
74TNFRSF1B106.6Experimental evidence of variantThese 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
75CD8A:CD8(11)100Annotation errorCD8 is a marker in cells.
76IBD399.9Annotation errorIt's a locus not a gene.
77HLA-DQB193.4Other evidences of genetic alterations
78LTA96.6Other 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."
79MYO9B99.9Experimental evidence of variantOur findings confirm the association between the MYO9B polymorphisms and susceptibility to both ulcerative colitis and Crohn's disease. 17944996.
80CCL299.9Other evidences of genetic alterationsProtein
81TLR599.9Experimental evidence of variantThe 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
82CASP1:caspase-1(9)94.2UnrelatedThe article talks about leprosy.
83NR1I296.6Other 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"
84CCR687.7Other evidences of genetic alterationswe 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.
85MAPK1480Biologically related but no evidence of mutation
86CSF2:GM-CSF(9)80Annotation errorAny of all these words refer to a gene.
87DEFA589.9Other 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."
88F2:prothrombin(9)80UnrelatedOne IBD patient (1.9%) and four healthy controls (2.6%) were heterozygous for the prothrombin-gene mutation. 10937811. (checked in the paper: CD).
89IL2788Experimental evidence of variant"In conclusion, genetic defects in IL-27 gene showed remarkable associations with CD in Chinese. 25674271."
90GSTM183.3Genetic 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."
91GSTT184.3Experimental evidence of variantGSTT1 null genotype was more frequent both in UC and CD as compared to healthy controls. 17565649.
92MSH685.4Unrelated
93HLA-C83.3Biologically 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."
94IBD289.9Annotation errorNOT A GENE.
95IL1381.5Genetic evidence in a related diseaseMainly 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.
96NFKBIA82.1Experimental evidence of variantA polymorphism of the NFKBIA gene is associated with Crohn's disease patients. 13680285.
97BTNL289.9Experimental evidence of variantOur results confirmed a significant association of CD with the following previously reported risk loci: BTNL2 (rs28362680). 25731871.
98PTGER487.4Other evidences of genetic alterationsFurther 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
99SLCO2A189.9Biologically related but no evidence of mutationAssociation not clear.
100TNFAIP389.9Experimental 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."
101ULK188.9Experimental 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"
102NAT279.9Experimental 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."
103IL17F74.9Treatment 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."
104FGB:fibrinogen(8)70Biologically 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."
105ZNF36579.9Experimental 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."
106HP:haptoglobin(6)79.9Other evidences of genetic alterationsWe conclude that the Hp polymorphism is associated with CD. 17357835.
107IL1A:IL-1A(2)70Biologically related but no evidence of mutation
108FASLG71.1Other evidences of genetic alterationsrs9286879
109IL10RB79.9Experimental evidence of variant"1 mutation in IL10RB that has been described recently (c.G477A, p.Trp159*. 25373860."
110SMAD373.2Experimental evidence of variant"Beside numerous chromosomal alterations, mutations in TP53, APC, PTEN and SMAD3 were identified. 27087592."
111PMS275.6Unrelated
112PPARG70.5Experimental evidence of variantThe Pro12Ala polymorphism showed significant association with CD when the frequencies of the homozygous variants (Pro/Pro vs. Ala/Ala) were compared. 21710534.
113NUDT1579.9Treatment ResponseNUDT15 is a pharmacogenetic determinant for thiopurine-induced leukopenia in diverse populations. 25108385
114TLR177.3Experimental evidence of variantTLR1 (rs4833095) and IL18 (rs187238) were associated with risk of both CD and UC (p<0.05). 26698117.
115XBP175.3Biologically related but no evidence of mutationWe 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.
116CASP971.1Treatment Response"Fat intake interacts with polymorphisms of Caspase9, FasLigand and PPARgamma apoptotic genes in modulating Crohn's disease activity."
117ORMDL379.9Experimental evidence of variant"Association with CD was confirmed for NOD2, ATG16L1, IRGM, MTMR3, and ORMDL3. 24247223."
118CDH170Genetic evidence in a related diseaseThis is the first independent study to replicate the HNF4_ and CDH1 loci as susceptibility loci for UC.
119TLR667.6Experimental 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."
120COX8A:Cox(4)69.9Annotation error"Only appears ""VIII"" once (and it is not a gene)."
121CX3CR165Experimental evidence of variantThe CX3CR1 T280M polymorphism appears to influence CD phenotype and localization. 16405540.
122?.:NKX2-3(7)69.9Non-Human
123DEFA669.9Biologically 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."
124DEFB4A:DEFB2(2)65.5Biologically 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."
125CCNY69.9Other 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."
126ICOSLG69.4Other evidences of genetic alterationsrs2838519
127A2:70-2(9)69.9Genetic 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"
128LCT:lactase(6)63.9UnrelatedThe C/C__ and G/G__ genotype of adult-type hypolactasia is not associated with susceptibility to the pathogenesis of Crohn disease and ulcerative colitis.
129SMAD462.5Unrelated
130MIF62.7Experimental evidence of variantThe 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.
131SERPINC1:antithrombin(2)60.1Biologically related but no evidence of mutation"antithrombin, and protein C were significantly higher in patients with IBD than in controls"
132PIK3CA61.7Negative evidenceNo PIK3CA mutations were observed.
133PTGS260Experimental evidence of variantThe -765G_C polymorphism was associated with a reduced risk for developing Crohn's disease in a Dutch population. 21124790.
134RAC161.3Genetic 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."
135STAT5A62.1Other evidences of genetic alterationsAdditional suggestive associations (P < 4.2 _ 10(-5)) were observed between Crohn's disease and IBD and African-specific SNPs in STAT5A and STAT3. 26278503.
136TGFB160Biologically related but no evidence of mutation
137CD4460.1Biologically related but no evidence of mutationgene expression decreased in IBD. 11733944
138MICA52.8Biologically related but no evidence of mutation
139CDKN2A50Unrelated
140GALM:IBD1(6)59.9Annotation errornot a gene.
141ACE50Experimental evidence of variantThere 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.
142DEFB155.3Experimental 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."
143ECM158Genetic evidence in a related diseaseThe TT genotype of ECM1 gene rs3737240 SNP significantly increased susceptibility for UC.
144NLRP156.9Annotation 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."
145GPR3:ACCA(5)59.2Biologically related but no evidence of mutation
146MUC1959.9Other evidences of genetic alterations"Moreover, we found associations at eight additional loci: GCKR, ATG16L1, CDKAL1, ZNF365, LRRK2-MUC19, C13orf31, PTPN2, and SBNO2."
147NR3C150.7Treatment ResponseOur results suggest that variations in the GR/NR3C1 gene are associated with corticosteroid resistance and dependency in pediatric-onset CD. 21633323
148CD27450.4Biologically related but no evidence of mutation
149HMOX150.8Biologically 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."
150A4:70(5)50.2Experimental evidence of variantThese 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.
151IL9:p40(6)52Biologically related but no evidence of mutation
152IRF555.9Experimental 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."
153NOS250Experimental 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."
154IBD659.9Annotation errorlocus.
155SERPINA1:AAT(2)50Other 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."
156CDKAL157.5Other evidences of genetic alterations"we found associations at eight additional loci: GCKR, ATG16L1, CDKAL1, ZNF365, LRRK2-MUC19, C13orf31, PTPN2, and SBNO2."
157IL2159.9Other 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."
158RBBP4:MSI(5)53.4Biologically related but no evidence of mutation
159ERAP259Experimental evidence of variant"SNP in the interacting ERAP2 gene increases susceptibility to another inflammatory autoimmune disorder, Crohn's disease (CD). 22253828."
160NCF154.6Other 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."
161SPINK1:PstI(6)52.9Annotation errorIn these cases: restriction enzyme.
162STAT653.1Negative evidenceThe STAT6 G2964A gene polymorphism is not involved in the overall susceptibility or in determining the phenotype of IBD.
163TCF7L254.1Biologically related but no evidence of mutation
164VEGFA:VEGF(7)50Biologically related but no evidence of mutationDetecting strong p53 overexpression with VEGF overexpression may help in differentiating inflammatory bowel disease from other colitis.
165VIM50Biologically related but no evidence of mutation
166CFTR49.9Experimental evidence of variantIn all three cohorts an association between DeltaF508 and Crohn's disease (CD) was observed. 17206681.
167FCRL347.2Unrelated"Mutations related with other diseases and no association between genes in IBDS. So, nothing."
168DMBT145.6Experimental evidence of variantWe identified novel associations of DMBT1 variants with CD susceptibility. 24223725.
169ERBB240Biologically 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."
170FCGR2A42.6Genetic 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."
171PADI444.6Genetic 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."
172HLA-DRB4:DR4(4)41.3Biologically related but no evidence of mutation"The frequencies of HLA-DR4, DRw53 and DQw3 antigens were increased in CD"
173IDH141.3Biologically 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)."
174APOE40Experimental 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."
175LINC01193:CT60(5)49.9Negative 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."
176IL1R142.6Treatment ResponseIL-1 SNPs seem to be associated with IBD and could affect the disease severity as well. 25466956
177IL2RA40GWAS evidence within geners12722489
178IL4R42.4Experimental evidence of variantFunctionally 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.
179IL540Biologically related but no evidence of mutation
180IL6R41.8Other 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"
181IL6ST42.3Unrelated29991969
182IL12RB246.9Other evidences of genetic alterations19235914 haplotype
183IL1643.8Experimental evidence of variantHerein a new association between a promoter polymorphism of the IL-16 gene and Crohn's disease was observed. 12706406.
184IRF142.4Experimental 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."
185ITGAM40.1Annotation error"CD11b is the unique word that appears in the text and is a marker, not a gene."
186ITPA45.1Treatment ResponsePatients 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
187GSTK1:GSTs(2)40.4Annotation error
188LAMB147.2Genetic evidence in a related diseasethe 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).
189LBP42.4UnrelatedNot talking about CD.
190LYZ40.7Unrelated"It is used as a marker, but it doesn't show any particular association."
191NCF244.6Experimental 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."
192NRAS40.9Other 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"
193OMP45.5Biologically related but no evidence of mutation
194SERPINE1:PAI-1(4)40Genetic 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."
195RNF18649.9Other 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"
196GSDMB49.9Other 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."
197BACH249.9GWAS evidence within geners1847472
198CCL2042.5Biologically 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."
199CX3CL143Biologically related but no evidence of mutation
200SLC22A1:organic cation transporter 1(3)43.2Experimental evidence of variantVariations in the SLC22A4 gene encoding OCTN1 are associated with rheumatoid arthritis and Crohn disease. 26994919. 17213842
201BPI44Experimental evidence of variantBPI polymorphism (Lys216Glu) is associated both to CD and UC. 21272798.
202PSMG149.9Other 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."
203IL18RAP47.2GWAS evidence within geners2058660
204IL1RL142.2GWAS evidence within geners13001325
205G6PC347.3Genetic evidence in a related diseaseSevere congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity 25491320
206CD40LG40.7Experimental evidence of variantWe 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.
207CD6840.1Annotation errorAnnotation Error-->CD68 is not a gene.
208CD2431.2Experimental 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)30Non-Human
210PSC34.2Annotation error
211TAGAP37.3Other evidences of genetic alterationsrs212388
212ADAD138.7Genetic 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)."
213CRYGFP:P < 1(2)30.7Annotation error
214CSF2RB34.4Experimental 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."
215CTNNB1:beta-catenin(3)30Annotation errorstaining method.
216CYBB31.4Biologically related but no evidence of mutationNo mutations for this illness specifically but related with the disease.
217?.:HD-5 and -6(2)39.9Non-Human
218AGER:RAGE(6)31.6Experimental 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."
219AHR30.4Other evidences of genetic alterationsHaplotypes. 31405308
220FOXO331.2Genetic evidence in related complicationsIt has also been reported that the minor G allele from the rs12212067 polymorphism (T>G) in FOXO3 is associated with milder CD. 26226934.
221GLI2:THP-1(2)30Annotation errorCell line.
222CXCR331.2Biologically 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"
223GUCY2C33.3Genetic 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."
224HLA-DRA34.1Genetic evidence in a related disease"three of six UC SNPs (in MST1, HLA-DRA, and IL-23R)"
225APAF1:Apaf-1(3)32Biologically 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."
226HNF4A30.7Experimental evidence of variantAn 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.
227APC31.8UnrelatedTalking about different diseases.
228HPS135.1Negative evidence"Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative."
229FAM92B39.9Negative evidence
230IFNGR233.2GWAS 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."
231IL1139.9Genetic evidence in a related diseaseOther genetic evidence: Haplotype for CD. Related but not mutated: Increased protein phosphorilation. Gen. alteration in a related disease: Mutated for UC. 12486609
232CXCL1030.1UnrelatedNo results for CXCL10.
233IRAK132.5Unrelated
234EPCAM31.1Biologically related but no evidence of mutation
235SMAD231Biologically related but no evidence of mutationIntestinal myofibroblast TRPC6 channel may contribute to stenotic fibrosis in Crohn's disease.
236MGMT30.5Biologically related but no evidence of mutationThese findings suggest the possibility of a serrated pathway of carcinogenesis in inflammatory bowel disease characterized by silencing of MGMT.
237CXCL931.3UnrelatedAny conclusion is stablished about CXCL9 gene.
238MUC130Biologically related but no evidence of mutation
239MYC30Genetic evidence in a related disease27063727
240NELL135.7Annotation 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."
241NPR3:guanylate cyclase C(2)33.8Biologically 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."
242DUOX233.7Experimental 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."
243ERAP139.9Other evidences of genetic alterationsERAP1 and HLA-C interaction in inflammatory bowel disease in the Spanish population.
244ACP133.6Biologically related but no evidence of mutation
245PIK3CD:PI3K(3)30Biologically related but no evidence of mutationWe 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.
246KRT20:CD20(2)39.9Annotation errorCD20 is a marker.
247POU2F1:OCT1(2)32.6Biologically related but no evidence of mutation
248PPARA30Genetic evidence in a related diseasePPAR_ Pro12Ala and LXR T-rs2695121-C homozygous variant genotypes were associated with risk of UC.
249MAPK1:ERK(3)30Biologically related but no evidence of mutation
250MAPK8:JNK(3)30Biologically related but no evidence of mutation
251AICDA:AID(2)30Unrelated
252RAC233.1Biologically related but no evidence of mutationThis study found a novel genetic association of RAC2 with Crohn's disease (CD) and replicated the previously reported association of NCF4 with ileal CD.
253RELA:p65(2)39.9Biologically 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,"
254CXCL1132Unrelated
255PRDM132.7Other evidences of genetic alterationsrs6568421
256SP130Biologically related but no evidence of mutationThe insertion of one CGGGG unit is predicted to create an additional binding site for the transcription factor SP1.
257ADAM17:TACE(2)31.1Treatment ResponseOne haplotype in the ADAM 17 region was associated with a clinical response to infliximab in CD patients (adjusted P=0.045). 17001292
258TCF431.8Biologically related but no evidence of mutationSame as TCF7L2.
259TCN232.8Experimental evidence of variantTCN2 rs1801198 mutation might be associated with increased risk of stricturing CD. 27545030.
260TLR330.9Biologically related but no evidence of mutation"NOD2 is a modulator of signals transmitted through TLR4 and TLR3,"
261CCR239.9Experimental 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."
262TYK232.6Other evidences of genetic alterationsTYK2 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.
263KIAA110937Other 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."
264MAP1LC3A:LC3(3)31Unrelated
265TNFRSF25:DR3(3)31.2Biologically 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."
266TNFRSF6B34.1Other 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"
267HERC235.4Biologically related but no evidence of mutation
268PHOX2B33.6Unrelated"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."
269ATG16L238.6Experimental 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."
270PSTPIP135.8Annotation errorThe CCTG repeat in the PSTPIP1 promoter may play a role in the pathogenesis of AA and of CD. 19731031.
271IL3331.4Other evidences of genetic alterations"23634226. Intergenic SNP, from GWAs This study is for asthma."
272NLRP1235.4Genetic evidence in related complications"31169706, an impact on the production of tumor necrosis factor-alpha (TNF_) in patients with inflammatory bowel disease"
273CD8030.2Biologically related but no evidence of mutation
274CD8630.1Biologically related but no evidence of mutation
275MAGI235.3Negative evidence"however, there was no association of MAGI2 and PARD3 with IBD."
276A1BG:GAB(2)22.1Annotation errorgoblet cells (celulas caliciformes).
277ADA29.9Genetic 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"
278RAD5021.5UnrelatedTalking about asthma.
279?.:RAGE(2)20.8Non-Human
280CALCOCO224.2Experimental 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."
281CDKN2B29.9Annotation error"CDKN2A/CDKN2B locus, not the gene"
282?.:c.3019(2)29.9Non-Human
283CDX220.7Biologically related but no evidence of mutation
284TRAF3IP222.6Treatment 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."
285IRAK3:IRAK-M(3)23.5Biologically related but no evidence of mutation
286ADCY724.8Genetic evidence in a related disease"28067910, Significant for UC"
287ATG4A29.9Genetic evidence in related complications"22261526, granuloma formation"
288CNR120.1Genetic evidence in related complicationsThe CNR1 p.Thr453Thr polymorphism appears to modulate UC susceptibility and the CD phenotype. 20195480.
289CNR220.7Negative evidenceThese 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.
290COL1A120.6Genetic evidence in related complicationsCOL1A1 gene polymorphisms influence BMD in patients with Crohn's disease. BMD means bone mineral density.
291CREM21.3Experimental 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"
292CSF1R20.9Experimental evidence of variantWe 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.
293CSF3:G-CSF(1)20Unrelated
294HORMAD226.2UnrelatedNo results.
295CYLD29.9GWAS 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."
296CYP1A120UnrelatedNo resuts for this gene.
297CYP2D629.9Negative evidence
298DAP22Annotation error
299IDO223.5Negative evidenceNo IDO2 SNPs associated with a particular Crohn's disease clinical phenotype.
300ATN1:Nod(2)21.2Annotation errorNOD (proteins). Nod as genes have been discussed as independent terms.
301AGT20Experimental evidence of variant"17047091, A variant in the angiotensinogen gene promoter results in increased peptide production, only significant in in one cohort"
302EGFR20Unrelated
303EP30020Other 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."
304ESR120Biologically related but no evidence of mutation
305KIF21B26Biologically related but no evidence of mutationIt 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.
306CLEC16A24GWAS 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."
307FN1:fibronectin(1)20Biologically 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."
308DDX5821Biologically 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)."
309LY9621.9Genetic 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."
310FUT322.5Genetic evidence in related complicationsMutations 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.
311IPMK29.9UnrelatedTalking about Alzheimer disease.
312C10orf6729Biologically 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)."
313Mm.Nod222.5Non-Human
314GCKR22.5GWAS evidence within geners780093
315SLC17A5:AST(2)20Annotation error
316?.:Pc=0.001(2)25.7Non-Human
317ABO20Annotation errorABO type blood group.
318GP222.2Biologically related but no evidence of mutation
319Bt.SLC11A125.1Non-Human
320GPR3524.2Other 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."
321GPX121.3Negative 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."
322GRB220.7Biologically related but no evidence of mutation
323CLEC2D24.7Experimental evidence of variant"However, one polymorphism in LLT1 was found to be associated with our CD population (P<0.034). 22664939."
324Rn.Tlr420.7Non-Human
325TBX2121.1Treatment 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."
326Rn.Lrrk224.6Non-Human
327CFH20.4UnrelatedTalking about Type 1 diabetes.
328ANXA5:annexin V(2)20Annotation errorAnnexin V as marker.
329CD20921.9Genetic 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."
330HLA-DPB1:DPB-1(1)20.8Biologically related but no evidence of mutation
331HLA-DQA120.7Other evidences of genetic alterations
332HLA-DRB523.9UnrelatedTalking about different diseases.
333HLA-G20.2Experimental evidence of variantpolymorphism in exon 8 of the HLA-G gene is associated with the risk of CD. 25577194.
334A1A29.9Biologically related but no evidence of mutation
335A1B23.2Biologically related but no evidence of mutation
336A5:BiP(1)20.1UnrelatedIs a marker...and there is no association.
337IRF822.2Biologically 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."
338IFNGR122.4Treatment 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."
339FAS:Apo1(2)20Experimental evidence of variantFas/Apo1 GENE: Fas-670 polymorphism was associated with the development of CD and UC in the Tunisian population. 19653342.
340IL12RB122.5Other evidences of genetic alterations"19235914, haplotypes"
341IL15RA22.7Unrelated
342IDO129.9Genetic 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."
343KCNN429.9Experimental evidence of variantOur data implicate the role of KCNN4 in ileal CD. KCNN4 SNP rs2306801 was associated with CD. 20407432.
344KRT8:keratin 8(2)20.9Experimental evidence of variantTHIS 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
345LY7523.1GWAS 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."
346MIR146A21UnrelatedNo positive results for MIR146A.
347MIR196A223.1Genetic 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."
348MAF21.5Annotation errorMinor allele frequency.
349MAPT20.5Biologically related but no evidence of mutation"Amongst these we find compelling functional candidate genes such as MAPT, GRB2 and CREM, LCT, and IL12RB2."
350MBP20Biologically related but no evidence of mutation
351MAP3K423.4Biologically related but no evidence of mutationWe identified a novel TLR signaling defect in CD patients involving MAP3K4 and IL-1A.
352MICB22.4Negative evidence11782275
353MSH524Unrelated
354Bt.NOD225.7Non-Human
355MST1R21.9Other evidences of genetic alterationsThe LD with these functional MST1R variants implicate this gene as having a possible role in CD pathogenesis. 18200509.
356MTRR21.7Experimental 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."
357MVK22.4Unrelated
358CEACAM629.9Negative evidence
359NPC121.4Biologically related but no evidence of mutation
360SLC11A222.3Negative evidenceCD patients did not reveal any mutations in NRAMP2.
361IBD427.3Other evidences of genetic alterationsIs a locus 14q11. 15194648
362NDUFA13:GRIM-19(3)23.9Negative evidenceNo abstract (but the title is consistent)
363IRAK422.4Unrelated
364TLR720.7Unrelated
365TLR821.7GWAS evidence within geneThe rs2407992 and the rs5744067 were associated with susceptibility to BD and CD. 26486764.
366PDCD120Other evidences of genetic alterationsrs35320439
367PECAM1:PECAM-1(2)20Annotation error
368TREM122.3Negative evidence"However, TREM-1 SNPs were not significantly associated with the development of Crohn's disease or ulcerative colitis."
369POU5F120Experimental 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!"
370UGT1A129.9Biologically 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."
371IL2629.9Biologically related but no evidence of mutation
372PARD322.6Negative evidence"however, there was no association of MAGI2 and PARD3 with IBD."
373EMSY:C11orf30(2)24.2Other evidences of genetic alterations
374IBD728.4Annotation errorIt is a locus called IBD7.
375ZMIZ124.8GWAS 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."
376PTEN20Experimental evidence of variant"Beside numerous chromosomal alterations, mutations in TP53, APC, PTEN and SMAD3 were identified. 27087592."
377NECTIN1:PRR(2)22.6Annotation error
378CXCL1629.9Experimental 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."
379CCND120Biologically related but no evidence of mutation
380BCL220Biologically related but no evidence of mutation
381RET29.9Unrelated"MEN: ""Multiple endocrine neoplasia"" syndrome. RET gene is analyzed in a patient with that disease."
382BRD221.6GWAS evidence within geners1049526
383?.:SAA(2)20.6Non-Human
384CXCL521.7Biologically related but no evidence of mutationThe 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.
385CXCL1220GWAS 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."
386SELL:L-selectin(3)20Genetic evidence in related complications"19212205, stricturing behavior."
387SLC39A823.9Experimental 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."
388SFTPD21.3Experimental evidence of variantCase-control analysis revealed a significant association of rs2243639 with susceptibility to Crohn's disease (CD). 21790524.
389H3P16:p21(3)20Annotation error
390SHC120.9Biologically related but no evidence of mutation
391CASD1:O-acetyltransferase(2)24.4Biologically 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."
392SLC10A222.4Other 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)29.9Non-Human
394SOD120UnrelatedThe 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.
395SOX920.4Biologically related but no evidence of mutation
396STAT5B21.8Negative evidence"No significant association was observed with the SNPs in STAT5a, IRF5, and STAT5b"
397MAP3K7:TAK1(3)21.2Biologically related but no evidence of mutation
398TF:transferrin(2)20Biologically related but no evidence of mutation
399TIMP1:TIMP-1(2)20Experimental evidence of variantThe TIMP-1 genotype TT in women and T in men at SNP +372 T/C was found to increase CD susceptibility. 17589947.
400TNFSF429.9Unrelated
401UBE2L323.5Other 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."
402VIL123.6UnrelatedNo results for this gene.
403WAS:Wiskott-Aldrich syndrome protein(2)21Unrelated
404ZAP7020.6GWAS evidence within geneZAP70 displayed a strong genetic association with CD for rs13420683. 23406209
405CXCR420Experimental 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."
406PDCD1LG229.9Biologically related but no evidence of mutation"Thus, tumor PDCD1LG2 expression is inversely associated with Crohn-like lymphoid reaction."
407TLR1023.2GWAS evidence within geneThis study provides evidence to suggest that genetic variation in TLR10 plays a role in interindividual differences in CD susceptibility and clinical outcome. 22342453
408CAMP:LL-37(2)20.4Biologically related but no evidence of mutation
409CASP8:caspase-8(3)20Biologically related but no evidence of mutationMechanisms 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.
410CAT20Unrelated
411GPR6529.9GWAS evidence within geners8005161
412HAVCR221.4Negative evidence
413UBASH3B:p70(2)21.7Biologically related but no evidence of mutationInterleukin-12-p70 cytokine production was higher (P=0.04) in lymphocytes from controls with two alleles of the 5-bp insertion.
414RUNX120.1Unrelated
415RNASET223.9Other evidences of genetic alterationsrs2149085
416PER322.5GWAS evidence within gene"In particular, the rs2797685 variant of the PER3 gene is associated with a more aggressive form of CD. 22881285."
417MTMR325.5GWAS evidence within gene"Association with CD was confirmed for NOD2, ATG16L1, IRGM, MTMR3, and ORMDL3. 24247223."
418HPS424.9Unrelated"In a long term they are talking about CD (long, long term) although they do not obtain positive evidences of mutations."
419NAT121.8Treatment ResponseNAT1 genotype affects TGN levels in patients treated with thiopurines and aminosalicylates and could therefore influence the toxicity and efficacy of these drug.
420HAP129.9Annotation errorHap 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).
421ARHGEF221.9Biologically related but no evidence of mutation21887730
422MAGI123.9GWAS 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."
423CD1929.9Annotation errorCD19 is a type of lymphocyte.
424SLC9A3R122.2UnrelatedNo evidences of mutations in this gene for this disease.
425ABCG220Negative evidence"The frequency of the ABCG2 and MDR1 SNPs was not significantly different among IBD, CD, UC patients and controls."
426TNFSF823.5Experimental 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."
427LY8629.9Unrelated
428CD3420UnrelatedNo results in order to summarize if there is any relation.
429ATG520.9Biologically related but no evidence of mutation23335927 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.
430CD4020GWAS evidence within gene"20634952, 5 prime utr variant, from GWAS"
431SETD1A21.9Annotation errorSET (of)
432CDH210Biologically related but no evidence of mutation"N-cadherin is not a gene, but CH2 it is."
433?.:SLC2A14(1)10Non-Human
434CDKN2B-AS110Other evidences of genetic alterations"29063720, from GWAS upstream"
435CDH310Biologically 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."
436Ss.NOD210Non-Human
437?.:MUC3(2)10Non-Human
438HDAC5:HD5(1)10Annotation error
439IBD19:IBD1-9(1)10Annotation errorNot a gene (immflamatory bowel disease1-9 loci)
440LINC0099410Unrelated
441Dr.nod110Non-Human
442Oc.NOD210Non-Human
443Oa.IL25:IL-25(2)10Non-Human
444OCLN:occludin(1)10Annotation error
445Mg.NOD110Non-Human
446Cg.Hprt1:HGPRT(1)10Non-Human
447Ch.SLC11A110Non-Human
448LINC-ROR:ROR(1)10Annotation errorRelative odd ratios.
449TRIM1010Genetic evidence in a related disease"28586827, for Parkinson Disease"
450ARPC210Genetic evidence in a related disease"18836448, associated with UC"
451Oa.IL23R10Non-Human
452Oa.IL17RB10Non-Human
453Oa.IL12RB110Non-Human
454Oa.IL17RA10Non-Human
455ARL4A10Biologically 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."
456RASGRP110Other evidences of genetic alterationsrs16967103
457LPCAT3:C3F(2)10Other 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."
458SLC25A1510Annotation error"23266558, SLC25A15-ELF1-WBP4 region on 13q14, within ELF1 gene"
459RCL110Genetic evidence in related complications"31235766, Variation of GMSI level"
460TENM1:TNM(1)10Annotation errorkind of clasiffication
461"TSHZ1:C, -863 C/A and -857 T/C(1)"10Annotation errorIt is a mutation bases' change.
462DDX39A:DDXL(1)10Negative evidenceNo association to either UC or CD was found in three novel intronic single nucleotide polymorphisms (SNPs) in DDXL.
463CDKN1A:p21(1)10Biologically related but no evidence of mutationdecrease of p21(WAF1/CIP1) expression may predispose the small-bowel mucosa to dysplasia and carcinoma development in Crohn disease.
464LOC102723996:ICOS ligand(2)10Biologically related but no evidence of mutation
465TRAIP10Experimental evidence of variantAn intronic SNP rs1128535 in the TRAIP gene was associated with CD in the screening and validation cohorts. 18200509.
466TNIP110Genetic evidence in a related disease"22694930, associated with asthma Talking about other diseases."
467IKZF110Unrelated29991969
468?.:c.1377(1)10Non-Human
469?.:c.1461(1)10Non-Human
470?.:c)=0.002(1)10Non-Human
471HMG20A10Genetic evidence in a related disease"27153721, T2D"
472?.:c.2462(1)10Non-Human
473?.:C2722(1)10Non-Human
474?.:Nucleotide-binding oligomerization domain-containing protein 1 and 2(1)10Non-Human
475?.:C3435(1)10Non-Human
476PRG310Other evidences of genetic alterations"22412388, from GWAS, intergenic"
477RACK110Unrelated
478CDS1:CD's(1)10Annotation errorCrohn disease's patientes
479CPQ:aminopeptidase(1)10Biologically related but no evidence of mutation
480ARIH210Genetic evidence in a related disease"25671699 , for IBD in general"
481TAB1:MAP3K7IP1(1)10GWAS evidence within gene"20570966, from GWAS, within gene rs6001585"
482MERTK10Biologically related but no evidence of mutation
483CLEC10A:MGL(1)10Negative 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."
484CEBPA:C/EBP(1)10Biologically related but no evidence of mutation
485KAT5:HTATIP(1)10Biologically related but no evidence of mutation
486ATG710Biologically 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."
487ARL6IP5:Hp 2-2(1)10Biologically related but no evidence of mutation
488ARPC1A10Unrelated
489CTCF10Genetic evidence in a related disease"19732864, asthma"
490AVIL10Negative 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)"10Non-Human
492?.:T2104(1)10Non-Human
493MASP2:MASP-2(1)10Genetic evidence in a related disease"31383674, tuberculosis"
494ENTR1:SDCCAG3(1)10Biologically related but no evidence of mutation
495PPARGC1A10Biologically 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)"
496MALT1:MALT-1(1)10Biologically related but no evidence of mutationIN 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.
497ADCY310Genetic evidence in a related diseaseTYPE 2 DIABETES.
498EHMT2:G9a(1)10Biologically related but no evidence of mutation
499COPS8:COP9(1)10Annotation erroris a protein complex not a gene
500Mm.Selenos:SELS(2)10Non-Human
501SPINK510UnrelatedTalking about Type 1 diabetes.
502IL24:IL-24(1)10Biologically related but no evidence of mutation"29568200, expressed in a NOD-dependent manner"
503Mm.Cdr3:complementarity determining region (CDR) 3(1)10Non-Human
504ADAM3010Other evidences of genetic alterationsNo results for ADAM30.
505ADAMTS1310Biologically related but no evidence of mutation
506RPP14:p14(1)10Biologically related but no evidence of mutation"30989570, methylation a part of the name of a locus."
507FGFR1OP10Biologically related but no evidence of mutation
508LlslI.yagA:L1007(1)10Non-Human
509CDC3710Biologically related but no evidence of mutation
510CHI3L1:cartilage glycoprotein-39(1)10Biologically related but no evidence of mutation
511RASSF1:RASSF1A(1)10Biologically related but no evidence of mutation
512WBP410Annotation error"23266558, SLC25A15-ELF1-WBP4 region on 13q14, within ELF1 gene"
513CHEK210Annotation errorFor breast cancer
514CAVIN3:PRKCDBP(2)10Genetic evidence in a related diseasein UC
515SP14010GWAS evidence within geners6716753
516HOGA1:NPL 2(1)10Annotation errormultipoint non-parametric linkage (NPL)
517CHRNA510Genetic evidence in related complications"29688464, A variant interacts with smoking to influence IBD-related surgery."
518EXOSC6:P < 1.1(1)10Annotation error
519CLN310Other evidences of genetic alterations"27153721, haplotypes"
520CYP2R110Negative evidence
521COLCA210Biologically related but no evidence of mutation
522NXPE110Biologically related but no evidence of mutation
523CDYL210GWAS evidence within gene"27569725, from GWAS, rs16953946"
524ZPBP210Unrelated
525Mm.Cd410Non-Human
526CNP10Annotation errorThis term means: Copy Number Polymorphism.
527"H3C14:H3, and H4(1)"10Annotation error
528CNTF10Genetic evidence in related complications"30801121, time-to-abdominal surgery"
529OR2T4:odds ratio (OR) 1.60(1)10Annotation errorOdds Ratio
530COL7A110Annotation error
531MBOAT2:LPAAT(1)10Biologically related but no evidence of mutation
532COMT10Biologically related but no evidence of mutation
533Mm.Dbil5:ELP(2)10Non-Human
534MAP3K810Experimental 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."
535SLCO6A110Other evidences of genetic alterationsNotable examples included TMEM183A and SLCO6A1 which exhibited strong evidence consistently in our WTCCC and both of the dbGaP SNP-SNP interaction analyses. 23071489.
536ZNF300P110Biologically related but no evidence of mutation
537CLDN410Negative 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."
538CREB110Biologically related but no evidence of mutation
539ATF2:ATF-2(2)10Biologically 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."
540CRHR110Genetic evidence in a related diseaseparkinson disease
541MACROD210Other 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."
542PARP1:poly(ADP-ribose) polymerase(2)10Biologically related but no evidence of mutation
543CSF1:M-CSF(1)10Annotation errornot a gene
544CSF2RA10Genetic evidence in related complicationsstricturing behavior
545SLC2A1410Genetic evidence in a related diseaseThree alleles in the SLC2A14 gene associated independently with IBD. 28971850 Both UC and CD
546ADRA1D:alpha-1(2)10Biologically related but no evidence of mutation
547CD300LF10UnrelatedMutation in this gene related with psoriasis.
548CCN2:CTGF(2)10Negative evidence
549CTNND210Annotation error
550PUS1010GWAS evidence within geners7608910
551CTSH10Biologically related but no evidence of mutation
552ASPRV1:SASP(1)10Biologically related but no evidence of mutation
553CYBA10Genetic evidence in related complications"29454792, more aggressive disease course"
554Mm.Hmmr:RHAMM(2)10Non-Human
555CYP2A610Experimental 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."
556Mm.Ighg110Non-Human
557CCDC12210Genetic evidence in a related diseasetalking about leprosy.
558DAPK1:death-associated protein kinase 1(1)10UnrelatedTalking about colorectal cancer.
559Mm.Il6:IL-6(1)10Non-Human
560Mm.Il6st:gp130(2)10Non-Human
561DBP10Annotation 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."
562Mm.Itgb110Non-Human
563GADD45A10Unrelated
564DEFA3:HNP-3(1)10Unrelated
565OLIG310UnrelatedNo relation with CD specifically.
566DDX53:CAGE(1)10Annotation errorcap analysis of gene expression (CAGE) profiles
567PSORS1C1:SEEK1(2)10Other evidences of genetic alterationsrs9264942
568DHCR710Negative evidence
569DIO110Biologically related but no evidence of mutation
570Mm.Mlh110Non-Human
571DLAT:PBC and CD(1)10Annotation errorrefers to primary biliary cirrhosis (PBC) and Crohn's diseases (CD)
572DLG110Experimental evidence of variant"24937328, c.374T>C (p.I125T), exome sequencing"
573DNAH510Genetic evidence in a related diseaseprimary colorectal adenocarcinoma
574Mm.Msh610Non-Human
575DNASE1:DNase I(1)10Annotation errordeoxyribonuclease I (DNase I) hypersensitive sites (D).
576DNTT:TDT(1)10Annotation errortransmission disequilibrium test
577SLC26A310UnrelatedNo results for CD.
578DRD210Biologically related but no evidence of mutation
579TYMP10Genetic evidence in a related diseaseMitochondrial neurogastrointestinal encephalomyopathy
580EDN110Biologically related but no evidence of mutation"20188614, downregulated in CD cells"
581AIF110Other 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."
582CELA1:pancreatic elastase 1(1)10Unrelated
583ELF110GWAS evidence within gene"23266558, SLC25A15-ELF1-WBP4 region on 13q14, within ELF1 gene"
584NLRP710Genetic evidence in a related disease"29211899, with UC"
585?.:NOD1/2(1)10Non-Human
586UNC13D:MUNC13-4(1)10Unrelated"No results for CD. Moreover, when the abstract talks about this gene, it is for a different disease."
587DNAH1210Experimental 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."
588NLRP1110GWAS evidence within gene"20403135, from gene-wide haplotype tagging approach, rs1363758"
589EPHX1:microsomal epoxide hydrolase(2)10Unrelated
590EPO:erythropoietin(1)10Annotation errorthe levels of erythropoietin
591ERBB310Genetic evidence in a related diseaseprimary colorectal adenocarcinoma
592EYA410Biologically related but no evidence of mutation
593Mm.Il23r10Non-Human
594ALB:Albumin(1)10Biologically 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."
595F2R10Negative evidence
596F2RL110Negative evidence
597FAAH10Genetic evidence in related complicationsThe FAAH p.Pro129Thr polymorphism may modulate the CD phenotype. 19053981.
598Mm.Tlr410Non-Human
599MS4A2:FCER1B(1)10UnrelatedTalking about Type 1 diabetes.
600FCGR1A:Fc-gamma receptor(1)10Treatment ResponseFcgammaRIIIB polymorphisms may be an important factor for clinical response to IFX treatment in CD.
601FCGRT:alpha-chain(2)10Annotation errorAlpha chain.
602SDK110Genetic evidence in a related diseaseprimary colorectal adenocarcinoma
603MMD210Other evidences of genetic alterations"20570966, from GWAS rs4720435, linked to RADIL and MMD2, suggestive association"
604DAGLB10Genetic 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."
605SCUBE310Genetic evidence in related complicationssignificant association with serum Vit D levels in CD
606FGF2:FGF-2(1)10Unrelated
607FGFR110Biologically related but no evidence of mutation
608FGFR310Genetic evidence in a related diseaseFamilial acanthosis nigricans Seems not to be related with CD at all. The paper is talking about a different disease.
609FGFR210Biologically related but no evidence of mutation
610IKZF310Biologically related but no evidence of mutation
611PHLDA110UnrelatedNo results for this gene.
612?.:NLRP1 and 2(1)10Non-Human
613ZHX2:RAF(1)10Biologically related but no evidence of mutation
614FKBP510Biologically 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)"
615SBNO210Other 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."
616KLRK1:NKG2D(1)10Unrelated
617SEP10Unrelated"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."
618MAPKBP1:JNKBP1(2)10Biologically related but no evidence of mutation
619FLG10Unrelated
620ATG2A10Genetic evidence in related complicationsgranuloma formation
621OTUD310Genetic 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"
622FMO310Negative evidence
623CUX210Genetic evidence in a related diseaseType 1 diabetes
624DICER110Unrelated
625SLC39A1410Unrelated
626FOS10Genetic 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"
627CLEC5A10Biologically related but no evidence of mutation"29568200, CD- and NOD2-associated genes of PBMCs (expression)"
628NUP62:p62(1)10Unrelated
629LDOC110Biologically 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)."
630CADM110Other evidences of genetic alterations"20570966, from GWAS, intergenic rs2513676"
631IL17RA10Other evidences of genetic alterations"19235914, haplotypes"
632ALK10Biologically related but no evidence of mutation
633ALOX510Other evidences of genetic alterations"A haplotype comprising the 4 ALOX5 SNPs (TCAA, p_=_0.036) was associated with CD. 21187935."
634Mm.Tlr210Non-Human
635Rn.Atp4a:HKa(1)10Non-Human
636Rn.Il1b:IL-1beta(1)10Non-Human
637Rn.Nos2:iNOS(1)10Non-Human
638MTOR10Biologically related but no evidence of mutation
639NR5A1:ELP(2)10Annotation error
640GAST:gastrin(1)10Annotation errorgastrin.
641FUT4:CD15(1)10Unrelated
642ACKR1:DARC(1)10Unrelated
643FYB1:Fyb(1)10Unrelated
644FYN10Genetic evidence in a related disease"24098138, DT1"
645G6PC:G6PT(1)10Unrelated
646GAD2:GAD65(1)10Unrelated
647GAK10Genetic evidence in a related disease"Parkinson disease, overlap with CD"
648PRDX510Other evidences of genetic alterations
649PARM110UnrelatedNot related with CD.
650SUMF210Biologically 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."
651RCHY1:chimp(1)10Annotation error
652GALNT210Biologically related but no evidence of mutation
653REXO210Biologically related but no evidence of mutation
654AOC1:diamine oxidase(2)10Negative evidence
655MAGI310Experimental 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."
656FDCSP:C4orf7(1)10Unrelated
657HACL1:HPCL(1)10Annotation errorHPCL=HPLC (liquid chromathografy)
658PRPF31:RP11(1)10Genetic evidence in related complications
659NAT910UnrelatedMutation in this gene associated with psoriasis.
660GATA3:GATA-3(1)10Biologically related but no evidence of mutation"22457781,"
661GBA10Unrelated
662GC:vitamin D-binding protein(2)10Experimental 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."
663KAT2A10Genetic evidence in a related diseaseand IBD and KAT2A rs730086. 26278503.
664GDI110Other 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)10Non-Human
666B3GAT1:CD57(1)10Annotation error
667CPAMD810Other evidences of genetic alterations"22412388, from GWAS, intergenic rs6545946"
668CHIA10Annotation error
669GLI110Negative evidence
670EML410Biologically related but no evidence of mutation
671?.:Pc=0.007(1)10Non-Human
672?.:Pc=0.009(1)10Non-Human
673?.:Pc=0.005(1)10Non-Human
674?.:Pc=0.015(1)10Non-Human
675?.:Pc=1.10(-5(1)10Non-Human
676?.:Pc=0.018(1)10Non-Human
677?.:Pc=0.003(1)10Non-Human
678?.:Pc=0.044(1)10Non-Human
679GOLGB1:GCP(2)10Annotation error
680Bt.TLR210Non-Human
681Bt.TLR410Non-Human
682?.:TLR(1)10Non-Human
683PPP2R3B10Biologically related but no evidence of mutation
684SLCO3A110Experimental 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."
685Bt.TLR910Non-Human
686CCDC88B10UnrelatedTalking about sarcoidosis.
687SLC39A510Unrelated
688ANGPT110UnrelatedNo related with CD.
689KANSL110Genetic evidence in a related diseaseParkinson disease
690GSDMA10Unrelated
691IGHD3-10:DXP'1(1)10Unrelated
692GPER1:G protein-coupled estrogen receptor(1)10Unrelated
693GPT:alanine aminotransferase(1)10Annotation error
694IGKV7-3:B1 and vitamin B6(1)10Biologically related but no evidence of mutation
695?.:B2/B3(1)10Non-Human
696CCDC2210UnrelatedNo results for CD.
697ZBTB4410Genetic evidence in related complicationsstricturing behavior
698SETD2:set 2(1)10Annotation errorSet 2 of families.
699PYCARD:ASC(1)10Biologically related but no evidence of mutation
700BRD710Other evidences of genetic alterations"23615072, haplotype"
701Rn.Nod210Non-Human
702CXCL310Biologically related but no evidence of mutation
703GSN:gelsolin(1)10Annotation error
704GSPT110Negative evidenceThe GGC(12) allele was present in 2.2% of colorectal cancer patients but was absent in Crohn disease patients and in the control group.
705GSTA110Treatment Response
706GSTP110Genetic evidence in a related diseaseFormer smoking was associated with an increased risk for UC only in the presence of GG/AG genotypes for GSTP1.
707Rn.Slc10a2:apical sodium-dependent bile acid transporter(1)10Non-Human
708Rn.Slc22a5:OCTN2(1)10Non-Human
709USP2510Other 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."
710GUCY1A1:GUCY1A3(1)10Genetic evidence in a related disease
711ICOS10Biologically related but no evidence of mutation
712NPC1L110Unrelated
713IL1910Other evidences of genetic alterationsrefers to a genetic interaction model
714GZMB:granzyme B(1)10Annotation errorMethod to select lymphocytes.
715Rn.Myd8810Non-Human
716HCL2:Rha(1)10Annotation error
717HGD10Annotation errorhigh grade dysplasia.
718PLA2G2E10Negative evidenceno results showed.
719NRG110Genetic 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)."
720HLA-A10UnrelatedTaking about HIV.
721Rn.Tlr210Non-Human
722"?.:HLA-A, -B and -DRB1(1)"10Non-Human
723?.:HLA-B and TNFalpha(1)10Non-Human
724HLA-DOA:HLA DOA(1)10Genetic evidence in related complications
725HLA-DPA110Negative evidence
726HLA-DQA210Experimental 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."
727HLA-DRB6:MHC class II antigen(1)10Annotation error
728Rn.Fos:c-fos(2)10Non-Human
729HMMR:RHAMM(2)10Unrelated
730HNRNPA1:hnRNP-A1(2)10Biologically related but no evidence of mutation
731HNRNPD10Experimental 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."
732HPRT110Unrelated
733AIRE10Biologically related but no evidence of mutation
734Mm.Tnfsf15:TL1A(2)10Non-Human
735110Biologically related but no evidence of mutation
736210Biologically related but no evidence of mutation
737BIRC3:cIAP2(1)10Biologically related but no evidence of mutation
738A1L10Experimental evidence of variantOur results indicate that de novo and rare mutations in A1L are associated with IBD and provide insights into the pathogenesis of IBD. 28126021.
73990AA1:90(2)10Annotation error"Taking about the protein, no interest in this context."
740D1:65(1)10Unrelated
741TNC:tenascin-C(2)10Biologically related but no evidence of mutation
742APOB10Unrelated
743?.:JM109(1)10Non-Human
744IDH210UnrelatedNo results for this gene.
745Dm.Toll-4:TLR4(1)10Non-Human
746AQP810Unrelated
747IFNA410Experimental evidence of variantWe 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.
748Dm.STUB1:dChip(1)10Non-Human
749IFNA1010Experimental evidence of variantWe 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.
750IFNA17:Inf alpha(1)10Unrelated
751Dm.Dlg510Non-Human
752IGF110Unrelated
753IGHG110Unrelated
754IL2RB10GWAS evidence within geneIL2RB SNPs genotyped (rs743776) was significantly associated with CD. 23972291
755IL2RG10Unrelated
756IL310UnrelatedSeveral 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
757CXCR210Biologically related but no evidence of mutation
758?.:IL17A/F(1)10Non-Human
759ING1:p47(2)10Biologically related but no evidence of mutation
760INS:insulin(1)10Unrelated
761Rn.Il27:rIL-27(1)10Non-Human
762ITGAX10Negative evidence"Also, several established SLE loci are apparently not associated with other ADs, including the ITGAM-ITGAX and TNFSF4 regions"
763ITGB210Biologically related but no evidence of mutation
764ITGB3:GPIIIa(2)10Unrelated
765Dr.ripk210Non-Human
766KIF5A10UnrelatedType 1 diabetes.
767KIR2DL4:KIR(1)10Biologically related but no evidence of mutationOur data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112.
768KIR2DS110Biologically related but no evidence of mutationOur data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112.
769KIR2DS510Biologically related but no evidence of mutationOur data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112.
770KIR3DS110Biologically related but no evidence of mutationOur data suggest that imbalance between activating and inhibitory KIR may partially explain the different pathogeneses of these IBDs. 27797112.
771KIT:CD117(1)10Annotation errorinnate lymphoid cells not a gene
772KLRB1:CD161(1)10Biologically 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."
773Mm.Crtc1:mTORC1(2)10Non-Human
774KPNA110Unrelated
775KRT7:keratin 7(1)10UnrelatedRelated with adenocarcinoma (hist. marker).
776?.:K8/K18(1)10Non-Human
777KRT1510Biologically related but no evidence of mutation
778NPSR110Genetic evidence in a related disease"for IBD in general, haplotypes"
779LAG310UnrelatedTalking about different diseases.
780OR4N2:odds ratio (OR) 1.48(1)10Annotation error
781OR4K8P:odds ratio (OR) 1.81(1)10Annotation error
782OR10K1:OR 1.6(1)10Annotation error
783OR10R3P:odds ratio (OR) 1.9(1)10Annotation error
784LAMP110Unrelated
785RPSA:LRP(1)10Unrelated
786LCN210Biologically related but no evidence of mutation
787LDLR:FHC(1)10Negative evidenceThe paper is not talking about CD.
788LEP10Annotation errorA method not a gene
789Gg.FN1:fibronectin(1)10Non-Human
790Gg.TNC:tenascin-C(2)10Non-Human
791LIF10UnrelatedNo results for this gene.
792IL17REL10Biologically related but no evidence of mutation
793LPL10Annotation errorhypertriglyceridemia (LPL)
794Clf.TLR410Non-Human
795LRP110Genetic evidence in a related diseaseprimary colorectal adenocarcinoma
796LRP610Biologically 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."
797LINC01194:T-A-G(1)10Annotation errorT-A-G is not a gene.
798LTB:lymphotoxin beta(1)10Unrelated
799CYP4F310Negative evidenceNo associations with the remaining 4 CYP4F3 SNPs with CD were evident
800LTF10Biologically related but no evidence of mutation
801SH2D1A10Unrelated
802MIRLET7E:Let-7e(1)10Biologically related but no evidence of mutationthis can be attributed to a loss of binding capacity for the microRNAs (miRNAs) Let-7e and Let-7f by the variant allele.
803MIR106B10Biologically related but no evidence of mutation
804MIR12210Genetic 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."
805MIR124-1:MIR124A(2)10Genetic 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."
806MIR148A:miR-148a(1)10Annotation errorIs a microRNA not a gene.
807MIR155:miR-155(1)10Biologically related but no evidence of mutationmiR-155 was upregulated in Crohn's disease patients with NOD2 mutations
808MIR192:miR-192(1)10Biologically related but no evidence of mutation
809MIR2110Biologically related but no evidence of mutation
810MIR221:miR-221(2)10Negative evidence
811MIR224:miR-224(2)10Negative evidence
812MIR31:miR-31(1)10Unrelated
813MIR9-3:MIR93(2)10Biologically related but no evidence of mutation
814?.:SMAD2/4(1)10Non-Human
815?.:SMAD(2)10Non-Human
816SMAD710Genetic evidence in a related diseaseFor UC
817MCAM10Biologically related but no evidence of mutation
818MDM210Other 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."
819MEF2C10Unrelated
820MAP3K1:MEKK1(1)10GWAS evidence within gene"18521924, missense variant rs832582"
821MGAT310Biologically related but no evidence of mutation29991969
822MLN:motilin(2)10Experimental 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."
823MMP1:matrix metalloproteinases (MMP)-1(1)10Genetic evidence in related complicationsThe 5T5T genotype at MMP-3 SNP -1613 5T/6T increased the chance of stenotic complications in CD during follow-up. 17589947
824MMP3:MMP-3(1)10Genetic evidence in related complicationsThe 5T5T genotype at MMP-3 SNP -1613 5T/6T increased the chance of stenotic complications in CD. 17589947.
825MMP710Biologically 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."
826MMP9:MMP-9(1)10Genetic evidence in related complications
827MMP1010Genetic evidence in a related disease
828MPG:AAG(1)10Annotation errorAAG nucleotides
829MPO10Unrelated
830MS:Multiple Sclerosis(1)10Annotation errora disease not a gene
831MSMB:MSP(1)10Annotation 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."
832Clf.TLR210Non-Human
833MT2A:MT2(1)10Negative evidence
834MT310Negative evidence
835COX2:COX-2(1)10Genetic evidence in a related diseasefor both CD and UC
836ND110Negative 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."
837MTR:Methionine synthase(2)10Genetic evidence in a related diseaseMethionine synthase 2756G allele frequency was higher in ulcerative colitis than in controls 0.15. 18700049.
838MUC210Experimental evidence of variantAllelic discrimination screening obtained statistically significant associations for the MUC2-V116M (P = 0.003) polymorphism with CD. 17058067.
839MUC3A10Experimental evidence of variantOur findings suggest that variants of MUC3A may be involved in the occurrence of UC and CD in distinct manners. 11289722.
840MUC410Genetic evidence in a related disease"MUC4-A585S (P = 0.025), as well as MUC13-R502S (P = 0.0003) with UC."
841MMUT:Mut(1)10Annotation error
842MUTYH10Unrelated
843MX1:MxA(1)10Unrelated
844MYD8810Unrelated
845NDUFB3:B12(2)10Annotation errorvitamin B12.
846NFE2:NF-E2(1)10Biologically related but no evidence of mutation
847NFIL3:E4BP4(1)10Biologically related but no evidence of mutation
848NFKB210Unrelated
849NFKBIL1:IKBL(2)10Negative 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"
850NKX3-1:NKX2-3(1)10Other evidences of genetic alterations"17554261, from GWAS, intergenic, rs10883365"
851NOS310Negative evidenceNOS3 polymorphisms do not play a major role in IBD predisposition.
852NOTCH410Unrelated
853Clf.NOD210Non-Human
854Clf.CTNND210Non-Human
855Clf.ADAMTS1610Non-Human
856NSF10Biologically related but no evidence of mutation
857TNFRSF11B10Negative evidence
858OPRM110Biologically related but no evidence of mutation
859OR3A1:OR 4.0(1)10Annotation error
860OSM10Biologically related but no evidence of mutation
861P2RX7:P2X7 receptor(1)10Negative evidence"In conclusion, the analysed intragenetic variants of the P2X(7) receptor may not be a susceptibility factor for CD."
862G0S210Biologically related but no evidence of mutation
863NOX310Genetic evidence in a related disease"""Chronic diseasee like"" genetically associated with worse effects."
864IL21R:IL21 receptor(1)10Biologically related but no evidence of mutation
865PAPPA:PAPA(2)10Annotation error"The PAPA syndrome, an acronym for pyogenic sterile arthritis, pyoderma gangraenosum and acne"
866KCNK410UnrelatedTalking about sarcodiosis.
867AK310Biologically 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)"
868F11R10UnrelatedNo results for F11R.
869CLEC4A:DCIR(1)10Negative 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"
870HEBP110Biologically related but no evidence of mutation
871PBX210Unrelated
872FIS110Biologically 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),"
873SEPSECS10Unrelated"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."
874TRNT110Unrelated
875SH3GLB110Unrelated
876PHF11:PHF-11(1)10Genetic evidence in related complicationsvit D levels
877SLC45A210UnrelatedTalking about other diseases.
878TIMMDC110GWAS evidence within gene"27812365, from GWAS intron variant, rs2293370"
879PDE2A10GWAS evidence within gene"27812365, from GWAS, intron variant, rs3781913"
880WNT1610Unrelated
881SUCO:CH1(1)10Unrelated
882SFMBT110Biologically related but no evidence of mutation
883CHMP510Biologically related but no evidence of mutation
884?.:IL-23/IL-17(1)10Non-Human
885WWOX10Annotation errorvariant is fromRP11 but is close (LD) with WWOX
886PGA510Unrelated
887PLA2G1B:phospholipase A2(1)10Biologically 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."
888PLA2G2A10Biologically related but no evidence of mutation
889PLA2G4A10Unrelated
890Bt.CLEC7A10Non-Human
891BCL11A10Biologically related but no evidence of mutation
892UBASH3A10Genetic evidence in a related diseasePrimary sclerosing cholangitis (PSC)
893PLEK:p47(2)10Negative evidence
894POMC10UnrelatedThis gene was used to compare methylation level.
895PON110Genetic evidence in a related diseasefor IBD in general
896PON210Genetic evidence in a related diseasefor IBD in general
897UGT1A710Negative evidence"However, there was no association between NAT2 haplotypes and UC, or between any UGT1A7 haplotypes and inflammatory bowel disease (IBD)."
898IL17RD10Other evidences of genetic alterations"19235914, haplotypes"
899PPP1R12C10Biologically related but no evidence of mutation
900DYM:dymeclin(1)10Genetic evidence in related complicationsThere 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.
901FNBP1L10Genetic evidence in related complicationsgranuloma formation
902ANKHD110Biologically related but no evidence of mutation
903RNF4310Unrelated
904MARCHF1:March 1(1)10Annotation error
905BANK110Negative evidenceNo significant association in the BANK1 and CLEC2D genes was observed
906HEATR310Other evidences of genetic alterations"23615072, haplotype"
907MOCOS10Biologically related but no evidence of mutation
908FEZF2:MALDI-TOF(1)10Annotation errormatrix-assisted laser desorption/ionization time-of-flight
909RAVER210Negative evidenceNone of these RAVER2 SNPs were associated with CD and APS susceptibility.
910PPP2R5E10Biologically related but no evidence of mutation
911BOLA210Genetic evidence in a related diseaseParkinson disease
912FBXW710Unrelated
913PRG210Other evidences of genetic alterations"22412388, from GWAS intergenic rs11229030"
914ITLN110GWAS evidence within geners2274910
915PRKAA1:LKB1-AMP activated protein kinase(1)10Unrelated
916AMBRA110UnrelatedNo results for AMBRA1
917SLC39A410Biologically related but no evidence of mutation
918INAVA:C1orf106(1)10GWAS evidence within geners7554511
919EXOC210Other evidences of genetic alterations"20570966, from GWAS (intergenic) rs7768444, suggestive association"
920AXL10Unrelated
921SELENOS:SELS(2)10Negative evidence
922PRKCQ10GWAS evidence within gene"30828974, from GWAS, missense variant, rs2236379"
923PRKCZ:Protein kinase C zeta(1)10Unrelated
924Dr.lrrk210Non-Human
925SULF210Genetic evidence in related complicationsStricturing CD
926MAPK7:Erk5(1)10Unrelated
927EIF2AK210Biologically related but no evidence of mutation
928PRNP:prion proteins(2)10Annotation errornot a gene
929MRAP:B27(1)10Unrelated
930MASP1:MASP(1)10Biologically related but no evidence of mutation
931PRTN3:c-ANCA(1)10Annotation error"PRTN3 doesn_t appear. c-ANCA is a marker, not a gene."
932CYP26B110Genetic evidence in related complications"non-stricturing, non-penetrating phenotype"
933INPP5E10Biologically related but no evidence of mutationNot specificated if mutations have been reported and in which disease specifically.
934B2M:beta2-microglobulin(1)10UnrelatedWas used as a DNA quality control.
935PSMD310Unrelated
936CD177:cell-surface receptor(1)10Annotation error
937LYRM410Genetic evidence in a related diseasefor UC
938SMURF110Genetic evidence in related complications"30801121, time-to-abdominal surgery"
939TTC7A:TTC7(1)10Genetic 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."
940KIR2DL5A:KIR2DL5(1)10Biologically related but no evidence of mutationInhibitory KIR2DL5 was found more frequently in UC and IBD patient groups than in healthy controls.
941Bt.TLR110Non-Human
942MIR495:miR-495(1)10Annotation errorMIR495 is a micro-RNA not a gene.
943MIR499A:MIR499(1)10Negative evidenceWe did not find associations between mir polymorphisms and IBD susceptibility.
944MAVS10Biologically related but no evidence of mutation
945COG610Biologically related but no evidence of mutationIt 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.
946HACE110Genetic evidence in a related diseaseCeliac disease
947MIB110Unrelated
948KIAA161410Genetic evidence in related complicationsStricturing CD
949?.:PTPN2/22(1)10Non-Human
950PTPN610Genetic 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."
951PTPN1110Negative evidence
952ZNF410:Apa-1(1)10UnrelatedIt's a variant and no results were found.
953MUC3B10Biologically related but no evidence of mutation
954RRAGD10Biologically 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."
955RAF110Genetic evidence in a related disease"24098138, DT1"
956RAG210UnrelatedSeems not to be related.
957IL22RA1:IL-22R1(1)10Genetic evidence in related complicationsTuberculosis and CD
958ACTA210Biologically 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."
959RANBP210Unrelated
960RAP1A10Other evidences of genetic alterations"30500874, rs488200, upstream"
961REL:c-Rel(1)10Other evidences of genetic alterationsrs10181042
962RELB10Unrelated....but not RelB or c-Rel.
963RFC110Unrelated
964TRIM2710Biologically 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"
965RNASE3:eosinophil cationic protein(1)10Other evidences of genetic alterationsHaplotypes. Maier curve showed a difference between haplotype distributions for the females with CD (P = 0.003).
966LDAH:C2orf43(1)10Genetic evidence in a related disease
967RPL710Other evidences of genetic alterations"22412388, from GWAS, intergenic rs12677663"
968DEFA1A310Unrelated
969BDKRB1:B1 receptor(2)10Experimental 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."
970BDKRB2:B2 receptor(1)10Negative evidence
971RXRA:Retinoid X receptor(1)10Unrelated
972S100A1:S100(1)10Unrelated
973S100A8:p 8(1)10Annotation error
974S100A10:P<10(1)10Annotation error
975SAA1:serum amyloid A protein(1)10Biologically related but no evidence of mutation
976SLC22A2310GWAS 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."
977CCL3:macrophage inflammatory protein 1 alpha(1)10Biologically related but no evidence of mutation
978CCL5:RANTES(1)10Biologically related but no evidence of mutation
979CCL710Other evidences of genetic alterations"20570966, from GWAS, CCL2/CCL7 locus rs991804"
980CCL1110Genetic evidence in a related disease
981CCL1710Negative evidenceGenotyping 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.
982CCL2210Negative evidenceGenotyping 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.
983SDC1:Syndecan-1(1)10Unrelated
984Rn.d1:65(1)10Non-Human
985SDHB:SDH(1)10Unrelated
986SELE:E-selectin(2)10Negative evidence
987ARHGEF28:Rip2(2)10Biologically related but no evidence of mutation
988CXCR510Other evidences of genetic alterations"26084578 from GWAS, intergenic rs6421571, nominally associated"
989NFKBIZ:IKBZ(1)10Biologically related but no evidence of mutation
990MT1IP:MT1(1)10Negative evidence
991CLEC7A:dectin-1(2)10Biologically 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."
992IL25:interleukin-25(1)10Negative 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."
993BMP210Unrelated
994NDRG410Biologically related but no evidence of mutation
995PINK110Unrelated
996BMP310Biologically related but no evidence of mutation
997SMTN:smoothelin(1)10Unrelated
998SLC6A410Negative evidence
999SLC15A110Experimental 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."
1000SNCA10Unrelated
1001FSCN1:fascin(1)10Unrelated
1002SNRPC:U1C(1)10Unrelated
1003SOX2:SOX-2(1)10Biologically related but no evidence of mutation
1004Mm.Lrrk210Non-Human
1005SPP110Other evidences of genetic alterations"22242114, haplotype"
1006BRCA1:BRCA-1(1)10Unrelated
1007TRIM21:Ro52(1)10Unrelated
1008RO6010Unrelated
1009BRCA210Unrelated
1010ST210Genetic evidence in a related diseaseUC
1011STAT110Unrelated
1012SULT1E110Unrelated
1013STK11:LKB1(1)10Unrelated
1014TAC1:substance P(1)10Annotation error
1015TADA2A:ADA*2(1)10Biologically related but no evidence of mutationASK VT!
1016TAP110Biologically related but no evidence of mutation
1017TAP210Biologically related but no evidence of mutation
1018BTK10Unrelatedwithout identified mutations had SD before prophylactic treatment.
1019"?.:TFF1, 2 and 3(1)"10Non-Human
1020?.:TFF1 and 3(1)10Non-Human
1021TFF210Unrelated
1022TFF310Unrelated
1023TGFBR2:TGFbeta RII(1)10Negative evidence"1 patient with Crohn's disease (14%), but mutations in the transforming growth factor beta type II receptor (TGFbeta RII) gene were absent."
1024TIMP2:TIMP-2(1)10Genetic evidence in related complicationsfavorable disease recurrence
1025TJP110Biologically 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."
1026TLE110GWAS evidence within geneSingle-nucleotide polymorphisms within TLE1 were associated with susceptibility to CD. 21699783.
1027"?.:Toll-like receptor-1, -2, and -6(1)"10Non-Human
1028?.:TLR2/1(1)10Non-Human
1029?.:Toll-like receptor 2/4(1)10Non-Human
1030TSPAN810UnrelatedTalking about type 2 diabetes.
1031TNFAIP610Treatment 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)10Non-Human
1033TNXB10Unrelated
1034C3:complement C3(1)10Other evidences of genetic alterationsThe results are compatible with a positive association of the C3F gene and Crohn's disease located in the small bowel. 6731047.
1035TRAF610Negative evidencenor was this polymorphism related to specific clinical features in IBD.
1036CCT3:CCTG(2)10Annotation errora motif not a gene They are deoxyribonucleotides.
1037TRPC410Biologically related but no evidence of mutation
1038TRPC610Biologically related but no evidence of mutation
1039TRPM210GWAS evidence within gene"23615072, R755C, nominal association"
1040C4BPB10Biologically related but no evidence of mutation
1041C5AR1:C5a(1)10Biologically related but no evidence of mutation
1042NPIPB810Other evidences of genetic alterations"27153721, haplotype"
1043TXK:Tyrosine Kinase(1)10Other evidences of genetic alterationsrs6837335
1044TYRO310Unrelated
1045UBA710Biologically related but no evidence of mutation
1046UCP210Experimental evidence of variant"the UCP2 -866 G/A polymorphism was associated with SLE, WG, CD and UC. 19387457."
1047NR1H210Genetic evidence in a related diseaseLXR T-rs1405655-C and T-rs2695121-C variant genotypes were associated with risk of IBD. 21245992. IBDs IN GENERAL!!
1048VCAM1:VCAM-1(1)10Unrelated
1049VIP10Annotation errordatabase
1050WFS110UnrelatedMutated in other diseases.
1051WNT310Genetic evidence in a related disease
1052WNT5A:Wnt 5a(1)10Annotation errorWnt 5a is a phenotype.
1053WNT7B10Unrelated
1054WNT10B10Unrelated
1055XDH10UnrelatedRelated with leukopenia.
1056XPC10Genetic evidence in a related diseasesquamous cell carcinoma of head and neck (SCCHN).
1057XPO110Genetic evidence in related complicationsStricturing CD
1058YY110Biologically related but no evidence of mutation
1059MZF110Biologically related but no evidence of mutation
1060CA2:CAC(1)10Annotation errorcolitis associated cancer
1061MIR671:miR-671(1)10Annotation errormicro RNA
1062ZNF13310Treatment Responseinfliximab
1063Mm.Atg16l110Non-Human
1064ZNF14810Biologically 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."
1065CACNA1E10Genetic evidence in related complicationsstricturing
1066Dr.nod210Non-Human
1067IL1R2:IL-1R2(1)10Unrelated
1068VKORC110Biologically 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."
1069GGCT:GGC(2)10Annotation errordeoxyribonucleotides
1070PRRC2A:BAT2(1)10Unrelated
1071OR5H5P:OR 3.3(1)10Annotation error
1072PGBD510Unrelated
1073FAT410Genetic evidence in a related diseaseprimary colorectal adenocarcinoma
1074VTCN110UnrelatedTalking about SLE.
1075MORC410GWAS evidence within gene"23946598, snp association, rs6622126, missense variant"
1076GSDMD:gasdermin-D(1)10Biologically related but no evidence of mutation
1077PIP4K2C10Unrelated"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."
1078HDAC1110UnrelatedThey are not studying this gene for CD.
1079CNTNAP310Biologically related but no evidence of mutationTalking about upregulations in CD related pathways.
1080SPG1110Unrelated
1081ADAM3310UnrelatedTalking about Type 1 diabetes.
1082NPL:NPL 1(1)10Annotation errormultipoint non-parametric linkage (NPL)
1083TUBB110UnrelatedThis gen is used to provide an example for a different disease.
1084TSPAN1410Genetic evidence in related complications"30801121, time-to-abdominal surgery"
1085CDR310Annotation error
1086MAP1LC3B:LC3B(1)10Unrelated
1087VMP110Biologically related but no evidence of mutationEpigenetics.
1088MKKS10Biologically 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."
1089EPX10Experimental 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)"10Non-Human
1091ATG1010Biologically related but no evidence of mutation
1092PLA2G10:sPLA2(1)10Biologically related but no evidence of mutation
1093TMPRSS13:Mspl(1)10UnrelatedResuts for HRas gene.
1094CASP1010Biologically related but no evidence of mutation
1095HPS310Unrelated"In a long term they are talking about CD (long, long term) although they do not obtain positive evidences of mutations."
1096CUL210Genetic evidence in a related diseasefor IBD in general
1097MT410Negative evidence
1098CASR10Unrelated"However, it remains unclear if there is a link between FHH, Kabuki syndrome and Crohn disease in this case."
1099OGT10Annotation error
1100ATG4D10Genetic evidence in related complicationsgranuloma formation
1101USP4510Unrelated
1102IKBKG:NEMO(2)10Biologically related but no evidence of mutation
1103CYP4F210GWAS 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."
1104DOCK710Biologically related but no evidence of mutation
1105AP3B1:ADTB3A(1)10Negative evidence"Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative."
1106FCN3:H-ficolin(1)10Biologically related but no evidence of mutation
1107TNFSF11:RANKL(1)10Other evidences of genetic alterationsrs2062305
1108RUNX1T1:CD-R(1)10Annotation errorFirst degree relatives
1109RUNX310Negative evidenceno association of RUNX3 haplotypes with either UC or CD was found
1110SOCS1:suppressor of cytokine signaling-1(1)10Annotation error
1111BECN110Biologically 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."
1112TRADD10Biologically related but no evidence of mutationMechanisms 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)10Non-Human
1114TNFRSF1410Unrelated
1115FADD10Biologically related but no evidence of mutationMechanisms 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.
1116TNFRSF10B:DR5(2)10Other evidences of genetic alterationsmutant genotype (CT+TT) of DR5 (rs1047266) may exert a negative synergistic effect on CD. 26418999.
1117SUCLA210UnrelatedFOR LEUKOPENIA
1118IL18R110UnrelatedIt is for asthma.
1119GGH10Negative evidence"No significant differences in the allele frequencies between CD, UC and healthy controls were detected."
1120CCN6:LIBC(1)10Unrelated
1121IER310Unrelated
1122SQSTM110Unrelated"For this gene, they are not talking about CD."
1123BSN10Genetic evidence in a related diseasefor IBD in general
1124P4HA210Biologically related but no evidence of mutation
1125MAP3K1410Biologically related but no evidence of mutation
1126SOCS3:suppressor of cytokine signaling 3(1)10Biologically 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."
1127CCRL2:HCR(1)10UnrelatedOther diseases are being studied.
1128CLDN210Other 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."
1129CLDN110Genetic evidence in a related disease"23946598, associated to IBD in general"
1130PYGO210Genetic evidence in a related diseasefor IBD in general
1131CD1A10Unrelated
1132TRIM4110Biologically related but no evidence of mutation
1133CD210Unrelated
1134CD3D10Unrelated
1135CD24710UnrelatedTalking about SLE.
1136ZNF30010UnrelatedZinc finger protein
1137MTA2:PID(1)10Annotation errorprimary immunodeficiencies (PIDs)
1138IL32:IL-32(2)10Biologically related but no evidence of mutation
1139TMEM183A10Biologically related but no evidence of mutation
1140CD9:CD44v8/9(1)10Unrelated
1141REEP6:DP1L1(2)10Experimental evidence of variantDP1L1 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)10Non-Human
1143VAMP310Other evidences of genetic alterationsrs2797685
1144PPT210Unrelated
1145FOXP210Other 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."
1146CD28:CD(28)(1)10Annotation errorType of lymphocyte.
1147TNFRSF8:CD30(1)10Unrelated
1148NCR2:NKp44(1)10Annotation errorinnate lymphoid cells not a gene
1149CD33:p67(1)10Biologically related but no evidence of mutationThis 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.
1150EIF2AK3:PERK(2)10Unrelated
1151ARHGEF610Biologically related but no evidence of mutation
1152TMEM5910Biologically related but no evidence of mutationThis 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.
1153CIR1:CIR(1)10Annotation errorcirrhotic patients.
1154CXCL1410Biologically related but no evidence of mutation
1155CLOCK10Annotation errorclock gene (related with circadian cyclus).
1156TRAF410Biologically 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."
1157CLCA210GWAS 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."
1158CD59:min(-1(1)10Annotation error
1159LPIN2:LPIN 2(1)10Unrelated
1160TBKBP110Unrelatedfrontotemporal dementia (FTD)
1161ELMO110Unrelated"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."
1162MED2410Unrelated
1163LRBA10Genetic 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."
1164FC210UnrelatedNo results for CD.
1165RBM1910Unrelated
1166SEC16A10Biologically related but no evidence of mutation
1167PUM3:PUFA(1)10Annotation error
1168SLC23A110GWAS evidence within geneA 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.
1169NR1H410Genetic evidence in a related diseasefor IBD in general
1170RBX110Other evidences of genetic alterationsrs4820425
1171?.:N-acetyl transferase (NAT) 1 and 2(1)10Non-Human
1172?.:Unassociated(456)-4569.9Non-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.