MSL3, MSL complex subunit 3, 10943

N. diseases: 32; N. variants: 9
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
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.300 Biomarker group CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231687
Disease: Spastic gait
Spastic gait 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231689
Disease: Gait, Athetotic
Gait, Athetotic 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231693
Disease: Charcot Gait
Charcot Gait 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231694
Disease: Gait, Festinating
Gait, Festinating 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231695
Disease: Cerebellar ataxic gait
Cerebellar ataxic gait 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231696
Disease: Gait, Hemiplegic
Gait, Hemiplegic 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 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: C0234996
Disease: Gait, Rigid
Gait, Rigid 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0235000
Disease: Gait, Broadened
Gait, Broadened 		0.300 Biomarker phenotype CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018
CUI: C0282631
Disease: Facies
Facies 		0.300 Biomarker group CTD_human De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 30224647 2018