Source: INFERRED

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

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

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 CausalMutation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation CLINVAR Male Rett phenotypes in T158M and R294X MeCP2-mutations. 17236109

2006