Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. 27159028

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation 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
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR DIAMUND: direct comparison of genomes to detect mutations. 24375697

2014
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		0.600 CausalMutation CLINVAR HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700

2012
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Cornelia de Lange syndrome. 25209348

2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Cornelia de Lange syndrome. 25209348

2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Cornelia de Lange syndrome. 25209348

2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Cornelia de Lange syndrome. 25209348

2015
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation 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
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Autism traits in children and adolescents with Cornelia de Lange syndrome. 24718998

2014
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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