stereotypic behavior Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. (Human Phenotype Ontology, HP_0000733)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000733
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Genes

42 genes associated with the stereotypic behavior phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADNP activity-dependent neuroprotector homeobox
BCR breakpoint cluster region
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDKL5 cyclin-dependent kinase-like 5
CHMP2B charged multivesicular body protein 2B
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNS cystinosin, lysosomal cystine transporter
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FLII flightless I homolog (Drosophila)
FOXG1 forkhead box G1
FOXP1 forkhead box P1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GRN granulin
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HDAC4 histone deacetylase 4
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KPTN kaptin (actin binding protein)
MAPK1 mitogen-activated protein kinase 1
MAPT microtubule-associated protein tau
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NDP Norrie disease (pseudoglioma)
NLGN4X neuroligin 4, X-linked
NPC2 Niemann-Pick disease, type C2
NTNG1 netrin G1
OCRL oculocerebrorenal syndrome of Lowe
PRDM16 PR domain containing 16
PRODH proline dehydrogenase (oxidase) 1
PRRT2 proline-rich transmembrane protein 2
PSEN1 presenilin 1
RAB39B RAB39B, member RAS oncogene family
RAI1 retinoic acid induced 1
RPE65 retinal pigment epithelium-specific protein 65kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
TARDBP TAR DNA binding protein
TBX1 T-box 1
TTI2 TELO2 interacting protein 2