loss of speech Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002371
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Genes

12 genes associated with the loss of speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ADAR adenosine deaminase, RNA-specific
ARSA arylsulfatase A
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CHMP2B charged multivesicular body protein 2B
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PPT1 palmitoyl-protein thioesterase 1
PSAP prosaposin
TPK1 thiamin pyrophosphokinase 1