absent speech Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Complete lack of development of speech and language abilities. (Human Phenotype Ontology, HP_0001344)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001344
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17 genes associated with the absent speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BMP4 bone morphogenetic protein 4
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
CUL4B cullin 4B
GMPPB GDP-mannose pyrophosphorylase B
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
POMT1 protein-O-mannosyltransferase 1
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STXBP1 syntaxin binding protein 1
TCF4 transcription factor 4
TMEM231 transmembrane protein 231
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
ZDHHC15 zinc finger, DHHC-type containing 15
ZEB2 zinc finger E-box binding homeobox 2