pseudobulbar signs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. (Human Phenotype Ontology, HP_0002200)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002200
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Genes

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

Symbol Name
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AP4M1 adaptor-related protein complex 4, mu 1 subunit
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
ERLIN2 ER lipid raft associated 2
FUS FUS RNA binding protein
HTRA1 HtrA serine peptidase 1
LMNB1 lamin B1
MBD5 methyl-CpG binding domain protein 5
NOTCH3 notch 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SOD1 superoxide dismutase 1, soluble
SPG11 spastic paraplegia 11 (autosomal recessive)