Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion. 25425123

2015
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Cornelia de Lange syndrome. 25209348

2015
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Histone deacetylase 3 is necessary for proper brain development. 25339172

2014
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. 23770587

2013
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Structure of HDAC3 bound to co-repressor and inositol tetraphosphate. 22230954

2012
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Histone deacetylase complexes promote trinucleotide repeat expansions. 22363205

2012
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Probing the role of HDACs and mechanisms of chromatin-mediated neuroplasticity. 21545841

2011
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Decoding the epigenetic language of neuronal plasticity. 19109904

2008
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Maintenance of cardiac energy metabolism by histone deacetylase 3 in mice. 18830415

2008
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Distribution of histone deacetylases 1-11 in the rat brain. 17416969

2007
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Histone deacetylase 3 interacts with and deacetylates myocyte enhancer factor 2. 17158926

2007
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR The histone deacetylase-3 complex contains nuclear receptor corepressors. 10860984

2000
dbSNP: rs1554216308
rs1554216308
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
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
HDAC3
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Cloning and characterization of the murine histone deacetylase (HDAC3). 10491319

1999