rs179363900, MECP2

N. diseases: 6
Disease: Rett Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.710 GeneticVariation BEFREE We show that a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome and another Rett syndrome-causing mutation, such that protein-heterochromatin binding observed by immunofluorescence and immunoblotting is wild-type > P152A > P152R > T158 M, consistent with the severity of the observed phenotype. 18989701 2009
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.710 CausalMutation CLINVAR