MAPKAPK3, MAPK activated protein kinase 3, 7867

N. diseases: 19; N. variants: 8
Disease: MACULAR DYSTROPHY, PATTERNED, 3 ×
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