MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Ppm-X Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3713418
Disease: Ppm-X Syndrome
Ppm-X Syndrome 		0.320 GermlineCausalMutation disease ORPHANET A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. 11885030 2002