JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE JAK2 rs1159782 (T>C) was also strongly associated with Crohn's disease (P = 2.34 × 10<sup>-4</sup> ; odds ratio = 3.72). 29441677 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE 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)) or in the combined cohort of patient with CD and UC (IBD) (NLRP3 (rs10754558), IL12B (rs3212217) and IFNGR1 (rs2234711)) (P<0.05). 28139755 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE A mutated and dysregulated form of JAK2, a tyrosine kinase, is associated with several diseases including Crohn's disease. 25463744 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE This meta-analysis indicated that JAK2 rs10758669 polymorphism was a risk factor both for CD and UC, especially in Caucasian. 24385239 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE 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 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 AlteredExpression disease BEFREE Additionally, the mRNA and protein expression of JAK2 and IL-23R were increased in UC and Crohn's disease (CD) patients. 24382939 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Data on genetic interaction reveals that the above JAK2 and STAT3 risk alleles contribute to CD susceptibility in combination with each other (OR: 2.218; 95% CI: 1.097-4.487; P = 0.024), while the JAK2 variant shows a tendency to confer UC risk only on a wild-type STAT3 background (OR: 1.997, 95%CI: 0.994-4.009, P = 0.049). 22269120 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Our data confirm the association between JAK2 rs10758669 (p = 0.026, OR = 1.25, 95% CI = 1.04-1.50) and STAT3 rs744166 (p = 0.04, OR = 0.83, 95% CI = 0.688-0.998) with CD, but not UC. 22065112 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Except rs10975003 from the JAK2 locus, none showed positive association with Crohn's disease. 21831733 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE For the JAK2 rs10758669 polymorphism, the homozygous C/C or heterozygous A/C genotypes increased the risk of having CD as compared with the homozygous A/A (OR=1.76, 95% CI=1.26-2.45 and OR=2.36, 95% CI=1.44-3.86, respectively, p=0.0003). 20109474 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Genome-wide association studies indicate that IL23R and five additional genes involved in Th17 differentiation (IL12B, JAK2, STAT3, CCR6 and TNFSF15) are associated with susceptibility to Crohn's disease and partly also to ulcerative colitis. 19592695 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease GWASDB Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 Biomarker disease GENOMICS_ENGLAND