MAPKAPK3, MAPK activated protein kinase 3, 7867

N. diseases: 19; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310713
Disease: MACULAR DYSTROPHY, PATTERNED, 3
MACULAR DYSTROPHY, PATTERNED, 3 		0.510 GermlineCausalMutation disease ORPHANET 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
CUI: C4310713
Disease: MACULAR DYSTROPHY, PATTERNED, 3
MACULAR DYSTROPHY, PATTERNED, 3 		0.510 Biomarker disease BEFREE The natural history of MCRPE is in relation to the role of MAPKAPK3 in BM modeling, vascular endothelial growth factor activity, retinal pigment epithelial responses to aging, and oxidative stress. 27474146 2016
CUI: C4310713
Disease: MACULAR DYSTROPHY, PATTERNED, 3
MACULAR DYSTROPHY, PATTERNED, 3 		0.510 GeneticVariation disease 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
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.300 GeneticVariation disease UNIPROT
CUI: C1837029
Disease: Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 		0.300 Biomarker disease CTD_human
CUI: C1868569
Disease: Patterned dystrophy of retinal pigment epithelium
Patterned dystrophy of retinal pigment epithelium 		0.300 Biomarker disease CTD_human
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		0.100 Biomarker phenotype HPO
CUI: C0429908
Disease: Susceptibility to tuberculosis
Susceptibility to tuberculosis 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.100 Biomarker disease HPO
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.100 GeneticVariation disease CLINVAR
CUI: C3280647
Disease: BACTEREMIA, SUSCEPTIBILITY TO, 2
BACTEREMIA, SUSCEPTIBILITY TO, 2 		0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.100 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE However, for colorectal cancer we present the detection of four tumor-associated antigen (TAA) biomarkers (MAPKAPK3, PIM-1, STK4, and GTF2B) as possible TAA targets for autoantibody production. 31309477 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE However, for colorectal cancer we present the detection of four tumor-associated antigen (TAA) biomarkers (MAPKAPK3, PIM-1, STK4, and GTF2B) as possible TAA targets for autoantibody production. 31309477 2019
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE In conclusion, we identified the first pathogenic mutation in MAPKAPK3 associated with a retinal disease. 26744326 2016
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 Biomarker disease BEFREE Inhibition of MAPKAPK3 impedes PDAC growth, identifying a potential new kinase target in PDAC. 26988419 2016
CUI: C0042109
Disease: Urticaria
Urticaria 		0.010 Biomarker disease BEFREE Our result verified CREB5 biological regulation module in the upstream of frontal cortex of HIVE-control patients (MAPKAPK3 activation; DGKG, LY96, TNFRSF11B inhibition) and downstream (ATP6V0E1, CFB, DGKG, MX1, TGFBR3 activation; LGALS3BP, RASGRP3, RDX, STAT1 inhibition), whereas in the upstream of frontal cortex of HIVE (BST2, CFB, LCAT, TNFRSF11B activation; CFHR1, LY96 inhibition) and downstream (GAS1, LCAT, LGALS3BP, NFAT5, VEZF1, ZNF652 activation; DGKG, IFITM1, LY96, TNFRSF11B inhibition). 21132541 2011
CUI: C0221232
Disease: Welts
Welts 		0.010 Biomarker phenotype BEFREE Our result verified CREB5 biological regulation module in the upstream of frontal cortex of HIVE-control patients (MAPKAPK3 activation; DGKG, LY96, TNFRSF11B inhibition) and downstream (ATP6V0E1, CFB, DGKG, MX1, TGFBR3 activation; LGALS3BP, RASGRP3, RDX, STAT1 inhibition), whereas in the upstream of frontal cortex of HIVE (BST2, CFB, LCAT, TNFRSF11B activation; CFHR1, LY96 inhibition) and downstream (GAS1, LCAT, LGALS3BP, NFAT5, VEZF1, ZNF652 activation; DGKG, IFITM1, LY96, TNFRSF11B inhibition). 21132541 2011
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 GeneticVariation disease BEFREE The SNP rs3792323 in MAPKAPK3 associates with the outcome of IFN therapy in patients with HCV genotype 1b. 19208361 2009
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.010 GeneticVariation disease BEFREE A polymorphism in MAPKAPK3 affects response to interferon therapy for chronic hepatitis C. 19208361 2009