MSL3, MSL complex subunit 3, 10943

N. diseases: 32; N. variants: 9
Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation phenotype CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation phenotype CLINVAR The MSL complex: juggling RNA-protein interactions for dosage compensation and beyond. 25900149 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation phenotype CLINVAR Corecognition of DNA and a methylated histone tail by the MSL3 chromodomain. 20657587 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation phenotype CLINVAR The MRG domain mediates the functional integration of MSL3 into the dosage compensation complex. 15988010 2005
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 GeneticVariation phenotype CLINVAR A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. 16227571 2005