MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Lupus Erythematosus, Systemic ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET These data suggest contributions of both IRAK1 and MECP2 to SLE susceptibility. 22904263 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Our data suggest that the lupus-associated variant in the MECP2/IRAK1 locus has the potential to affect all 3 epigenetic mechanisms: DNA methylation, microRNA expression, and histone modification. 23428850 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Mutations of SNPs (rs2075596, rs2239464) of MeCP2 showed increased risk of developing SLE. 23857988 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. 22654485 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.500 SusceptibilityMutation disease ORPHANET Recent insights into the genetic basis of systemic lupus erythematosus. 19440199 2009