MAPKAPK3, MAPK activated protein kinase 3, 7867

N. diseases: 19; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037913
rs886037913
Entrez Id: 7867
Gene Symbol: MAPKAPK3
MAPKAPK3
CUI: C4310713
Disease:
MACULAR DYSTROPHY, PATTERNED, 3
0.700 GeneticVariation UNIPROT A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. 26744326 2016
dbSNP: rs375412266
rs375412266
Entrez Id: 7867
Gene Symbol: MAPKAPK3
MAPKAPK3
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.700 GeneticVariation UNIPROT
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0429908
Disease:
Susceptibility to tuberculosis
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C3280647
Disease:
BACTEREMIA, SUSCEPTIBILITY TO, 2
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C1970028
Disease:
MALARIA, SUSCEPTIBILITY TO (finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041296
Disease:
Tuberculosis
0.030 GeneticVariation BEFREE In conclusion, CISH promoter rs414171 and rs809451 polymorphisms may play a vital role in mediating individual susceptibility to tuberculosis. 24632804 2014
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041296
Disease:
Tuberculosis
0.030 GeneticVariation BEFREE The results of the case-control study showed that the C allele of rs2239751 and the T allele of rs414171 are associated with TB susceptibility, and this association exists only in women and young adults. 25460819 2014
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041296
Disease:
Tuberculosis
0.030 GeneticVariation BEFREE The AA genotypes of the SNPs rs2239751 and rs414171 were significantly associated with TB. 23949851 2014
dbSNP: rs2239751
rs2239751
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041296
Disease:
Tuberculosis
0.020 GeneticVariation BEFREE The results of the case-control study showed that the C allele of rs2239751 and the T allele of rs414171 are associated with TB susceptibility, and this association exists only in women and young adults. 25460819 2014
dbSNP: rs2239751
rs2239751
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041296
Disease:
Tuberculosis
0.020 GeneticVariation BEFREE The AA genotypes of the SNPs rs2239751 and rs414171 were significantly associated with TB. 23949851 2014
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0243026
Disease:
Sepsis
0.010 GeneticVariation BEFREE The CISH rs414171 polymorphism is associated significantly with susceptibility to sepsis and MODS in traumatic patients, which might prove to be a novel biomarker for indicating risk of infectious outcomes in critically injured patients. 29920655 2018
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0036690
Disease:
Septicemia
0.010 GeneticVariation BEFREE The CISH rs414171 polymorphism is associated significantly with susceptibility to sepsis and MODS in traumatic patients, which might prove to be a novel biomarker for indicating risk of infectious outcomes in critically injured patients. 29920655 2018
dbSNP: rs2239751
rs2239751
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE No significant association was observed between CISH rs2239751 polymorphism and risk/protection of PTB. 27266592 2017
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE Our findings indicated that CISH rs414171 and rs6768300 variants might be associated with protection from PTB. 27266592 2017
dbSNP: rs6768300
rs6768300
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041327
Disease:
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE Our findings indicated that CISH rs414171 and rs6768300 variants might be associated with protection from PTB. 27266592 2017
dbSNP: rs2239751
rs2239751
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE Two SNPs (rs414171 and rs2239751) in the CISH gene were associated with persistent HBV infection in Han Chinese population, but not with HBV progression. 24964072 2014
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0151517
Disease:
Complete atrioventricular block
0.010 GeneticVariation BEFREE CISH gene polymorphisms at -292 (rs414171) are associated with HBV clearance in HBeAg-positive CHB patients in the immune active phase, and AA is a favorable genotype for this effect. 24791876 2014
dbSNP: rs414171
rs414171
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE Two SNPs (rs414171 and rs2239751) in the CISH gene were associated with persistent HBV infection in Han Chinese population, but not with HBV progression. 24964072 2014
dbSNP: rs6768300
rs6768300
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE The other two SNPs (rs622502 and rs6768300) showed no association with persistent HBV infection. 24964072 2014
dbSNP: rs809451
rs809451
Entrez Id: 1154;7867
Gene Symbol: CISH;MAPKAPK3
CISH;MAPKAPK3
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE In conclusion, CISH promoter rs414171 and rs809451 polymorphisms may play a vital role in mediating individual susceptibility to tuberculosis. 24632804 2014
dbSNP: rs3792323
rs3792323
Entrez Id: 7867
Gene Symbol: MAPKAPK3
MAPKAPK3
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE The SNP rs3792323 in MAPKAPK3 associates with the outcome of IFN therapy in patients with HCV genotype 1b. 19208361 2009
dbSNP: rs616589
rs616589
Entrez Id: 7867
Gene Symbol: MAPKAPK3
MAPKAPK3
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE We identified 2 SNPs (rs3792323 [A/T] and rs616589 [G/A]), located in intron 2 of mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3) that were associated with the outcome of IFN therapy in patients infected with hepatitis C virus (HCV) genotype 1b (P = 4.6 x 10(-5) and 4.8 x 10(-5), respectively). 19208361 2009