MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 Biomarker disease BEFREE MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys. 21821449 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. 10805343 2000