MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Lubs X-linked mental retardation syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61750241
rs61750241
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		G 0.700 CausalMutation CLINVAR Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. 22497713 2012
dbSNP: rs61750241
rs61750241
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		G 0.700 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
dbSNP: rs61750241
rs61750241
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		G 0.700 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905 1999
dbSNP: rs1557135315
rs1557135315
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs179363900
rs179363900
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs28934906
rs28934906
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61749721
rs61749721
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61750240
rs61750240
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61752992
rs61752992
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1846058
Disease:
Lubs X-linked mental retardation syndrome 		G 0.700 CausalMutation CLINVAR