×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
10508514
1999
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Rett syndrome: revised diagnostic criteria and nomenclature.
21154482
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
MECP2 mutations in males.
17351020
2007
×
Entrez Id:
284058
Gene Symbol:
KANSL1
KANSL1
Muscle hypotonia
0.400
Biomarker
CTD_human
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features.
22544363
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
12615169
2003
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.
8177735
1993
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
24399845
2014
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.
17267601
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
27354166
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.
8177735
1993
×
Entrez Id:
50484
Gene Symbol:
RRM2B
RRM2B
Muscle hypotonia
0.400
Biomarker
CTD_human
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
19138848
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Functional consequences of Rett syndrome mutations on human MeCP2.
11058114
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
16169931
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
18337588
2008
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Using a large international sample to investigate epilepsy in Rett syndrome.
23421866
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
16169931
2006
×
Entrez Id:
3954
Gene Symbol:
LETM1
LETM1
Muscle hypotonia
0.400
Biomarker
HPO
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond.
25900149
2015
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
CausalMutation
CLINVAR
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
17236109
2006
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
Using a large international sample to investigate epilepsy in Rett syndrome.
23421866
2013
×
Entrez Id:
284058
Gene Symbol:
KANSL1
KANSL1
Muscle hypotonia
0.400
Biomarker
CTD_human
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
22544367
2012
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
The MRG domain mediates the functional integration of MSL3 into the dosage compensation complex.
15988010
2005
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
Muscle hypotonia
0.400
Biomarker
GENOMICS_ENGLAND
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
30224647
2018
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Muscle hypotonia
0.400
GeneticVariation
CLINVAR
MECP2 mutations in males.
17351020
2007