Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.400 Biomarker phenotype GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530 2018
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166 2016
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond. 25900149 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype 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 		0.400 GeneticVariation phenotype CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Mof-associated complexes have overlapping and unique roles in regulating pluripotency in embryonic stem cells and during differentiation. 24898753 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype 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 		0.400 CausalMutation phenotype CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Using a large international sample to investigate epilepsy in Rett syndrome. 23421866 2013
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.400 Biomarker phenotype 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: 284058
Gene Symbol: KANSL1
KANSL1 		0.400 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Structural and biochemical studies on the chromo-barrel domain of male specific lethal 3 (MSL3) reveal a binding preference for mono- or dimethyllysine 20 on histone H4. 20943666 2010
Entrez Id: 10943
Gene Symbol: MSL3
MSL3 		0.400 GeneticVariation phenotype CLINVAR Corecognition of DNA and a methylated histone tail by the MSL3 chromodomain. 20657587 2010
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		0.400 Biomarker phenotype CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker phenotype CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 GeneticVariation phenotype CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype CLINVAR MECP2 mutations in males. 17351020 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 CausalMutation phenotype CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601 2007