HDAC8, histone deacetylase 8, 55869

N. diseases: 236; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 Biomarker disease BEFREE These results suggest that HDAC8 activators might be useful leads in the search for new therapeutic strategies in managing CdLS. 25075551 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Recently, we identified mutations in the X-linked gene HDAC8 as the cause of a small number of CdLS cases. 24403048 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 Biomarker disease CLINGEN Thus, we have further founded that the p.M196K mutation in HDAC8 is a relevant causal mutation for CdLS. 25102094 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Thus, we have further founded that the p.M196K mutation in HDAC8 is a relevant causal mutation for CdLS. 25102094 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in genes encoding subunits (SMC1A, SMC3, RAD21) or regulators (NIPBL, HDAC8) of the cohesin complex account for approximately 65% of clinically diagnosed CdLS cases. 24756084 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. 24918291 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼ 70% of CdLS cases. 23683030 2014
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 24403048 2014
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation disease CLINVAR Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 24403048 2014
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation disease CLINVAR DIAMUND: direct comparison of genomes to detect mutations. 24375697 2014
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Approximately 60% of CdLS cases are due to NIPBL mutations, 5% caused by mutations in SMC1A, RAD21, and HDAC8 and one proband was found to carry a mutation in SMC3. 24038889 2013
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GermlineCausalMutation disease ORPHANET SMC3 with retained acetylation is loaded onto chromatin, and chromatin immunoprecipitation sequencing analysis demonstrates decreased occupancy of cohesin localization sites that results in a consistent pattern of altered transcription seen in CdLS cell lines with either NIPBL or HDAC8 mutations. 22885700 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 Biomarker disease CLINGEN SMC3 with retained acetylation is loaded onto chromatin, and chromatin immunoprecipitation sequencing analysis demonstrates decreased occupancy of cohesin localization sites that results in a consistent pattern of altered transcription seen in CdLS cell lines with either NIPBL or HDAC8 mutations. 22885700 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 GeneticVariation disease BEFREE Here we identify HDAC8 as the vertebrate SMC3 deacetylase, as well as loss-of-function HDAC8 mutations in six CdLS probands. 22885700 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 Biomarker disease CLINGEN X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 22889856 2012
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation disease CLINVAR HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700 2012
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 GeneticVariation disease UNIPROT HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700 2012
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.600 Biomarker disease CLINGEN Epigenetic control of skull morphogenesis by histone deacetylase 8. 19605684 2009
CUI: C1839736
Disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME 		0.500 GermlineCausalMutation disease ORPHANET X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 22889856 2012
CUI: C1839736
Disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 Biomarker group RGD Expression of Class I and Class II a/b Histone Deacetylase is Dysregulated in Hypertensive Animal Models. 28567090 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 Biomarker group BEFREE In summary, these data indicate that HDAC2 and HDAC8 play a key role in cardiac remodeling in renovascular hypertensive rats and that VPA attenuates hypertension and cardiac remodeling. 27673327 2017
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		0.200 Therapeutic disease RGD Roles of HDAC2 and HDAC8 in Cardiac Remodeling in Renovascular Hypertensive Rats and the Effects of Valproic Acid Sodium. 27673327 2017
CUI: C0154536
Disease: Amphetamine or related acting sympathomimetic abuse
Amphetamine or related acting sympathomimetic abuse 		0.200 Biomarker disease RGD Differential effects of binge methamphetamine injections on the mRNA expression of histone deacetylases (HDACs) in the rat striatum. 25452209 2014
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.200 Therapeutic phenotype RGD HDAC inhibition suppresses cardiac hypertrophy and fibrosis in DOCA-salt hypertensive rats via regulation of HDAC6/HDAC8 enzyme activity. 23868068 2013