Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
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: 7468
Gene Symbol: NSD2
NSD2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530

2018
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. 27354166

2016
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond. 25900149

2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR MECP2 duplication: possible cause of severe phenotype in females. 24458799

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367

2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Rett syndrome: revised diagnostic criteria and nomenclature. 21154482

2010
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Corecognition of DNA and a methylated histone tail by the MSL3 chromodomain. 20657587

2010
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301

2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. 18337588

2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR MECP2 mutations in males. 17351020

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. 17267601

2007