dysplastic corpus callosum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. (Human Phenotype Ontology, HP_0006989)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006989
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Genes

4 genes associated with the dysplastic corpus callosum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
GPSM2 G-protein signaling modulator 2
MCOLN1 mucolipin 1
NT5C2 5'-nucleotidase, cytosolic II