Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 CausalMutation CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079

2016
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 CausalMutation CLINVAR Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 27465203

2016
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 CausalMutation CLINVAR Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation. 24328834

2014
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 CausalMutation CLINVAR MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. 14598336

2003
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 CausalMutation CLINVAR A Rett syndrome MECP2 mutation that causes mental retardation in men. 11805248

2002
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 CausalMutation CLINVAR A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. 11885030

2002
dbSNP: rs28934908
rs28934908
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		A 0.710 GeneticVariation CLINVAR