MTMR12, myotubularin related protein 12, 54545

N. diseases: 5; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. 25897834 2015
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.100 GeneticVariation phenotype GWASCAT The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response. 25897834 2015
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		0.010 Biomarker disease BEFREE This work highlights an important physiological function of catalytically inactive phosphatases in the pathophysiology of myotubular myopathy and suggests a novel therapeutic approach through identification of drugs that could stabilize the myotubularin-MTMR12 complex and hence ameliorate this disorder. 23818870 2013
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.010 Biomarker disease BEFREE Analysis of mtmr12 morphant fish showed pathological changes with central nucleation, disorganized Triads, myofiber hypotrophy and whorled membrane structures similar to those seen in X-linked myotubular myopathy. 23818870 2013
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		0.010 Biomarker disease BEFREE This work highlights an important physiological function of catalytically inactive phosphatases in the pathophysiology of myotubular myopathy and suggests a novel therapeutic approach through identification of drugs that could stabilize the myotubularin-MTMR12 complex and hence ameliorate this disorder. 23818870 2013