supranuclear gaze palsy Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. (Human Phenotype Ontology, HP_0000605)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/HP:0000605
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Genes

49 genes associated with the supranuclear gaze palsy phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
MAPT microtubule-associated protein tau 3.10219
MOBP myelin-associated oligodendrocyte basic protein 1.836
IRF4 interferon regulatory factor 4 1.70448
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 1.59332
STX6 syntaxin 6 1.46277
CD8B CD8b molecule 1.24751
SLCO1A2 solute carrier organic anion transporter family, member 1A2 1.16661
CASP7 caspase 7, apoptosis-related cysteine peptidase 0.911279
ZDHHC14 zinc finger, DHHC-type containing 14 0.828053
GPC5 glypican 5 0.825497
KANK1 KN motif and ankyrin repeat domains 1 0.817516
PRKCE protein kinase C, epsilon 0.803642
SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 0.794657
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 0.781192
SHROOM3 shroom family member 3 0.761926
SSX2IP synovial sarcoma, X breakpoint 2 interacting protein 0.74366
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 0.721344
NIN ninein (GSK3B interacting protein) 0.690274
VAX2 ventral anterior homeobox 2 0.662854
WDR25 WD repeat domain 25 0.645131
CLSTN2 calsyntenin 2 0.632852
G6PC2 glucose-6-phosphatase, catalytic, 2 0.626496
C19ORF47 chromosome 19 open reading frame 47 0.62168
FXN frataxin 0.614969
NEGR1 neuronal growth regulator 1 0.612151
GUCY1A2 guanylate cyclase 1, soluble, alpha 2 0.607975
DUSP22 dual specificity phosphatase 22 0.59159
ETV6 ets variant 6 0.590688
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.579744
STAU2 staufen double-stranded RNA binding protein 2 0.576661
DDB2 damage-specific DNA binding protein 2, 48kDa 0.572823
MADD MAP-kinase activating death domain 0.572823
SFXN1 sideroflexin 1 0.565624
AKT2 v-akt murine thymoma viral oncogene homolog 2 0.563675
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 0.558686
EGF epidermal growth factor 0.55667
STK32B serine/threonine kinase 32B 0.556012
ARG2 arginase 2 0.552194
TCTN2 tectonic family member 2 0.551579
GAS7 growth arrest-specific 7 0.548586
LRRK2 leucine-rich repeat kinase 2 0.545725
HPSE heparanase 0.545167
AKR1C3 aldo-keto reductase family 1, member C3 0.544067
FRMD3 FERM domain containing 3 0.543523
TNS3 tensin 3 0.541991
EFNB2 ephrin-B2 0.541565
UNC13C unc-13 homolog C (C. elegans) 0.541565
FGF12 fibroblast growth factor 12 0.539897
NR1H3 nuclear receptor subfamily 1, group H, member 3 0.429005