HDAC3, histone deacetylase 3, 8841

N. diseases: 179; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Cornelia de Lange syndrome. 25209348 2015
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity. 25800122 2015
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. 25425123 2015
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. 25102098 2014
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Histone deacetylase 3 is necessary for proper brain development. 25339172 2014
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 23770587 2013
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Histone deacetylase complexes promote trinucleotide repeat expansions. 22363205 2012
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Structure of HDAC3 bound to co-repressor and inositol tetraphosphate. 22230954 2012
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Probing the role of HDACs and mechanisms of chromatin-mediated neuroplasticity. 21545841 2011
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 20691407 2010
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Decoding the epigenetic language of neuronal plasticity. 19109904 2008
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Maintenance of cardiac energy metabolism by histone deacetylase 3 in mice. 18830415 2008
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Distribution of histone deacetylases 1-11 in the rat brain. 17416969 2007
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Histone deacetylase 3 interacts with and deacetylates myocyte enhancer factor 2. 17158926 2007
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Histone modifications affect timing of oligodendrocyte progenitor differentiation in the developing rat brain. 15897262 2005
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Structural insights into the interaction and activation of histone deacetylase 3 by nuclear receptor corepressors. 15837933 2005
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells. 11742974 2001
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR The SMRT and N-CoR corepressors are activating cofactors for histone deacetylase 3. 11509652 2001
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR The histone deacetylase-3 complex contains nuclear receptor corepressors. 10860984 2000
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR N-terminal region, C-terminal region, nuclear export signal, and deacetylation activity of histone deacetylase-3 are essential for the viability of the DT40 chicken B cell line. 10748092 2000
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Both corepressor proteins SMRT and N-CoR exist in large protein complexes containing HDAC3. 10944117 2000
dbSNP: rs1554216308
rs1554216308
Entrez Id: 8841
Gene Symbol: HDAC3
HDAC3
CUI: C0026650
Disease:
Movement Disorders
C 0.700 GeneticVariation CLINVAR Cloning and characterization of the murine histone deacetylase (HDAC3). 10491319 1999