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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 GeneticVariation disease BEFREE We confirmed the associations of 10 known UC risk loci in Koreans: rs76418789 in IL23R (combined P = 1.25 × 10), rs4728142 in IRF5 (combined P = 3.17 × 10), rs1830610 near JAK2 (combined P = 2.28 × 10), rs1555791 near TNFRSF14 (combined P = 1.62 × 10), rs880790 between IL10-IL19 (combined P = 3.73 × 10), rs10185424 between IL1R2-IL1R1 (combined P = 1.54 × 10), rs6478108 in TNFSF15 (combined P = 9.28 × 10), rs861857 between UBE2L3-YDJC (combined P = 3.05 × 10), rs1801274 in FCGR2A (discovery P = 1.54 × 10), and rs17085007 between GPR12-USP12 (discovery P = 3.64 × 10). 26398853 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 GeneticVariation disease BEFREE Our data suggest that FCGR2A, JAK2 or HNF4A variants play a role in the pathogenesis of ulcerative colitis in Koreans. 21831733 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 Biomarker disease CTD_human Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 Biomarker disease CTD_human Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 20228799 2010
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.390 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