absent speech Gene Set
Genes
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
|
