MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Pulmonary Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.320 Biomarker disease BEFREE We found that expression of TSC1 and TSC2 can be repressed by MeCP2, which regulates HELF cell differentiation and proliferation as myofibroblasts and lead to PF ultimately. 28041914 2017
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.320 Biomarker disease BEFREE Our data clearly suggest the existence of two independent signals within the Xq28 region, one located in IRAK1 related to PF and another in MECP2 related to diffuse cutaneous SSc, indicating that both genes may have an impact on the clinical outcome of the disease. 23444193 2013
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.320 Biomarker disease CTD_human Thus, MeCP2 is essential for myofibroblast differentiation and pulmonary fibrosis. 21435439 2011