spastic diplegia Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. (Human Disease Ontology, DOID_10965)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0001264
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Genes

10 genes associated with the spastic diplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
AASS	aminoadipate-semialdehyde synthase
CTNNB1	catenin (cadherin-associated protein), beta 1, 88kDa
FLNA	filamin A, alpha
GAD1	glutamate decarboxylase 1 (brain, 67kDa)
GCDH	glutaryl-CoA dehydrogenase
HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4
NAA10	N(alpha)-acetyltransferase 10, NatA catalytic subunit
PNP	purine nucleoside phosphorylase
RAB3GAP1	RAB3 GTPase activating protein subunit 1 (catalytic)
SOX2	SRY (sex determining region Y)-box 2