Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.430 AlteredExpression group BEFREE We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations. 27798109 2016
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.430 GeneticVariation group BEFREE Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. 24715439 2014
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.430 GeneticVariation group BEFREE Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. 22753018 2012
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.430 Biomarker group CTD_human Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 20691407 2010
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.430 Biomarker group HPO