Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.440 Biomarker disease BEFREE Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. 25402011 2015
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.440 GeneticVariation disease BEFREE Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence. 24715439 2014
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.440 Biomarker disease BEFREE Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE). 23188045 2013
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.440 GeneticVariation disease 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
0.440 Biomarker disease 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
0.440 Biomarker disease HPO