spastic diplegia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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)
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Genes

40 genes co-occuring with the disease spastic diplegia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 2.57109
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 1.4342
PQBP1 polyglutamine binding protein 1 1.32192
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 1.18324
GCH1 GTP cyclohydrolase 1 1.09629
ARG1 arginase 1 0.926279
CPVL carboxypeptidase, vitellogenic-like 0.923387
OPHN1 oligophrenin 1 0.885569
ATL1 atlastin GTPase 1 0.870006
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 0.866321
PLP1 proteolipid protein 1 0.853631
L1CAM L1 cell adhesion molecule 0.835198
THEM4 thioesterase superfamily member 4 0.779432
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.740299
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.709169
ADGRV1 adhesion G protein-coupled receptor V1 0.708767
MIXL1 Mix paired-like homeobox 0.641827
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 0.637102
FOLR1 folate receptor 1 (adult) 0.619834
PROCR protein C receptor, endothelial 0.618268
MLXIPL MLX interacting protein-like 0.606543
PLIN1 perilipin 1 0.60186
AFF2 AF4/FMR2 family, member 2 0.567997
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.562558
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.532701
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.513033
FOXL2 forkhead box L2 0.510728
BBS2 Bardet-Biedl syndrome 2 0.480186
MCM8 minichromosome maintenance complex component 8 0.473361
GLB1 galactosidase, beta 1 0.458996
PNP purine nucleoside phosphorylase 0.418768
HSPG2 heparan sulfate proteoglycan 2 0.414276
PAX8 paired box 8 0.402318
MAG myelin associated glycoprotein 0.375179
ADRB2 adrenoceptor beta 2, surface 0.310652
LTA lymphotoxin alpha 0.297291
MECP2 methyl CpG binding protein 2 0.282582
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.258064
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 0.198709
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.178403